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Gene entry

POLG

DNA polymerase gamma, catalytic subunit

Chromosome
15
Cytoband
15q26.1
Variants (rsID)
73

POLG is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q26.1). Its official name is “DNA polymerase gamma, catalytic subunit”. The reference table lists 73 variants (rsID) for this gene.

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Clinically classified variants

64 reference-table entries with clinical significance.

  • rs148658588Benignsingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs2307447Benignsingle nucleotide variantMitochondrial disease|Progressive sclerosing poliodystrophy|Seizure
  • rs41549716Benignsingle nucleotide variantProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive sclerosing poliodystrophy|Seizure|POLG-Related Spectrum Disorders|Hereditary spastic paraplegia
  • rs113994097Conflicting interpretationssingle nucleotide variantSensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Spinocerebellar ataxia with epilepsy|Progressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders|Mitochondrial disease|Seizure|Mitochondrial DNA depletion syndrome 4b|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
  • rs121918049Conflicting interpretationssingle nucleotide variantSensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders|Intellectual disability|See cases
  • rs138929605Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders|Mitochondrial DNA depletion syndrome|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Hereditary spastic paraplegia|Toe walking
  • rs140079523Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|11 conditions
  • rs143631183Conflicting interpretationssingle nucleotide variantPOLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy|Seizure
  • rs144500145Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|6 conditions|Intellectual disability|Hereditary spastic paraplegia
  • rs145289229Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|6 conditions|Seizure|POLG-Related Spectrum Disorders|Hereditary spastic paraplegia
  • rs146301349Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs146936870Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs147404477Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|Hereditary spastic paraplegia
  • rs147407423Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|Seizure|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Global developmental delay
  • rs147563527Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs150088708Conflicting interpretationssingle nucleotide variantPOLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy
  • rs181860632Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|Seizure|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
  • rs199759055Conflicting interpretationssingle nucleotide variantSensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders
  • rs201477273Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Seizure|Spinocerebellar atrophy|Mitochondrial DNA depletion syndrome 4b|Hereditary spastic paraplegia|POLG-Related Spectrum Disorders
  • rs201566815Conflicting interpretationssingle nucleotide variantPOLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy
  • rs201749977Conflicting interpretationssingle nucleotide variantPOLG-Related Spectrum Disorders|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive sclerosing poliodystrophy
  • rs202037973Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|Intellectual disability|Seizure|POLG-Related Spectrum Disorders
  • rs2307437Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders|Hereditary spastic paraplegia
  • rs2307440Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs2307448Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders|Toe walking|Hereditary spastic paraplegia
  • rs367610201Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive sclerosing poliodystrophy|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Mitochondrial DNA depletion syndrome 4b|Hereditary spastic paraplegia
  • rs368435864Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs368587966Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs369544574Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|Hereditary spastic paraplegia
  • rs371431444Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders
  • rs373550219Conflicting interpretationssingle nucleotide variantPOLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy|Hereditary spastic paraplegia
  • rs375935084Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders
  • rs377390914Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders
  • rs41546712Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|Seizure|POLG-Related Spectrum Disorders|Hereditary spastic paraplegia
  • rs555280530Conflicting interpretationssingle nucleotide variantPOLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy
  • rs55779802Conflicting interpretationssingle nucleotide variantPOLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Hereditary spastic paraplegia
  • rs61752780Conflicting interpretationssingle nucleotide variantPOLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy|Seizure|Hereditary spastic paraplegia
  • rs61752783Conflicting interpretationssingle nucleotide variantMitochondrial disease|Idiopathic camptocormia|Progressive sclerosing poliodystrophy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Seizure|POLG-Related Spectrum Disorders|Toe walking|Hereditary spastic paraplegia
  • rs61752784Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy|Seizure|POLG-related disorders|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|POLG-Related Spectrum Disorders|Hereditary spastic paraplegia|Toe walking
  • rs62640034Conflicting interpretationssingle nucleotide variantPOLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy|Hereditary spastic paraplegia
  • rs757860628Conflicting interpretationssingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs766521182Conflicting interpretationssingle nucleotide variantPOLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy
  • rs777231247Conflicting interpretationssingle nucleotide variantPOLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy
  • rs201732356Likely pathogenicsingle nucleotide variantProgressive sclerosing poliodystrophy|6 conditions|Childhood myocerebrohepatopathy spectrum|Mitochondrial disease|Abnormality of the nervous system
  • rs113994093Pathogenicsingle nucleotide variantMitochondrial disease
  • rs113994095Pathogenicsingle nucleotide variantProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Spinocerebellar ataxia with epilepsy|Progressive sclerosing poliodystrophy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|POLG-Related Spectrum Disorders|Mitochondrial disease|6 conditions|Seizure|POLG-related condition|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|POLG-related disorders|Mitochondrial DNA depletion syndrome 4b|Toe walking|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Hereditary spastic paraplegia|Neurodevelopmental delay
  • rs113994098Pathogenicsingle nucleotide variantProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|POLG-Related Spectrum Disorders|6 conditions|POLG- Related Disorder|Seizure|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Hereditary spastic paraplegia|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial disease
  • rs121918054Pathogenicsingle nucleotide variantProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders|Mitochondrial disease|Seizure|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Hereditary spastic paraplegia
  • rs121918056Pathogenicsingle nucleotide variantMitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Abnormality of corpus callosum
  • rs139562274Pathogenicsingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs139590686Pathogenicsingle nucleotide variantPOLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Toe walking
  • rs142347031Pathogenicsingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs267606959Pathogenicsingle nucleotide variantMitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy
  • rs753160398Pathogenicsingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs121918052Uncertain significancesingle nucleotide variantSpinocerebellar ataxia with epilepsy|Progressive sclerosing poliodystrophy
  • rs121918053Uncertain significancesingle nucleotide variantProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive sclerosing poliodystrophy
  • rs141367015Uncertain significancesingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs147827654Uncertain significancesingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs149099318Uncertain significancesingle nucleotide variantProgressive sclerosing poliodystrophy
  • rs191490663Uncertain significancesingle nucleotide variantProgressive sclerosing poliodystrophy|Seizure|Hereditary spastic paraplegia
  • rs2307442Uncertain significancesingle nucleotide variantProgressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders
  • rs3176162Uncertain significancesingle nucleotide variantMitochondrial disease|Progressive sclerosing poliodystrophy|Seizure|POLG-Related Spectrum Disorders
  • rs536732038Uncertain significancesingle nucleotide variant6 conditions|Progressive sclerosing poliodystrophy
  • rs62640037Uncertain significancesingle nucleotide variantPOLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy|Seizure|Mitochondrial disease

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.