Sugi Variant

Sugi Variant/XPA

XPA — 387 ClinVar variants

All ClinVar germline XPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

53 Pathogenic · 16 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 11 Conflicting · 13 Benign · 7 Benign/Likely benign · 157 Likely benign · 91 Uncertain significance

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

⚑ Evidence disagreements 65

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 vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 40

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

Predictors split 16

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

All XPA variants

Pathogenic 53

Pathogenic/Likely pathogenic 16

Likely pathogenic 39

Conflicting classifications of pathogenicity 11

Benign 13

Benign/Likely benign 7

  • c.172+11C>T Multiple submitters xeroderma pigmentosum group A
  • c.674-12dup Multiple submitters xeroderma pigmentosum
  • c.-4A>G Multiple submitters xeroderma pigmentosum group A
  • p.Leu252Val Multiple submitters xeroderma pigmentosum group A
  • p.Met256Val Multiple submitters xeroderma pigmentosum group A
  • p.Ser190Ala Multiple submitters xeroderma pigmentosum
  • p.Val97Ile Multiple submitters xeroderma pigmentosum group A

Likely benign 157

Uncertain significance 91