Sugi Variant

Sugi Variant/POLG2

POLG2 — 563 ClinVar variants

All ClinVar germline POLG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 295 flagged for review →

20 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 30 Conflicting · 18 Benign · 7 Benign/Likely benign · 150 Likely benign · 326 Uncertain significance

Full POLG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 295

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 15

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 233

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 233

Predictors split 47

The independent predictors disagree with each other — read with care.

All POLG2 variants

Pathogenic 20

Pathogenic/Likely pathogenic 2

Likely pathogenic 10

  • p.Gly451Glu Multiple submitters POLG2-related disorder
  • c.1110+2T>A Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
  • c.1192-1G>A Single submitter mitochondrial DNA depletion syndrome 16 (hepatic type)
  • c.562+1G>C Single submitter
  • c.689+1G>A Single submitter
  • c.689+2T>C Single submitter
  • c.690-1G>A Single submitter
  • c.969+1G>A Single submitter
  • p.Gln124Ter Single submitter
  • p.Leu139fs Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

Conflicting classifications of pathogenicity 30

Benign 18

  • c.1110+44T>C Multiple submitters mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
  • c.1191+6dup Multiple submitters mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
  • c.1192-132A>G Multiple submitters
  • c.562+112T>C Multiple submitters
  • c.-183T>C Multiple submitters
  • c.-81T>C Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
  • p.Ala169Thr Multiple submitters mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
  • p.Asp386Glu Multiple submitters hereditary spastic paraplegia ⚠
  • p.Ser423= Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
  • c.1111-157T>G Single submitter
  • c.1293-295_1293-293del Single submitter
  • c.562+221G>A Single submitter
  • c.563-118A>G Single submitter
  • c.563-285G>A Single submitter
  • c.795+307T>C Single submitter
  • c.970-20del Single submitter
  • c.-61G>A Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
  • c.-70T>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

Benign/Likely benign 7

Likely benign 150

Uncertain significance 326

Showing the top 300 by review status; the full set is in the sitemap.