Sugi Variant

Sugi Variant/POLH

POLH — 621 ClinVar variants

All ClinVar germline POLH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →

41 Pathogenic · 5 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 24 Conflicting · 58 Benign · 11 Benign/Likely benign · 229 Likely benign · 238 Uncertain significance

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

⚑ Evidence disagreements 136

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 11

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

Predictors lean, ClinVar uncertain 112

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 13

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

All POLH variants

Pathogenic 41

Pathogenic/Likely pathogenic 5

  • c.764+1G>A Multiple submitters xeroderma pigmentosum variant type
  • p.Glu164Ter Multiple submitters xeroderma pigmentosum
  • p.Ser213Ter Multiple submitters xeroderma pigmentosum variant type
  • p.Ser51fs Multiple submitters xeroderma pigmentosum variant type
  • p.Thr408fs Multiple submitters POLH-related disorder

Likely pathogenic 15

Conflicting classifications of pathogenicity 24

Benign 58

Benign/Likely benign 11

Likely benign 229

Uncertain significance 238