Sugi Variant

Sugi Variant/ERCC8

ERCC8 — 580 ClinVar variants

All ClinVar germline ERCC8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →

54 Pathogenic · 25 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 15 Conflicting · 45 Benign · 4 Benign/Likely benign · 244 Likely benign · 150 Uncertain significance

Full ERCC8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 129

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 1

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

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 76

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

Predictors split 48

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

All ERCC8 variants

Pathogenic 54

Pathogenic/Likely pathogenic 25

  • c.1041+1G>T Multiple submitters Cockayne syndrome type 1
  • c.1042-2A>G Multiple submitters Cockayne syndrome type 1
  • c.173+1119G>C Multiple submitters Cockayne syndrome type 1
  • c.173+1G>A Multiple submitters Cockayne syndrome type 1
  • c.618-1G>A Multiple submitters Cockayne syndrome type 1
  • c.78_79del Multiple submitters
  • p.Ala160Val Multiple submitters Cockayne syndrome
  • p.Ala205Pro Multiple submitters Cockayne syndrome type 1
  • p.Arg217fs Multiple submitters Cockayne syndrome type 1
  • p.Arg268Ter Multiple submitters Cockayne syndrome type 1
  • p.Asp266Gly Multiple submitters UV-sensitive syndrome 2
  • p.Cys157fs Multiple submitters UV-sensitive syndrome 2
  • p.Gln183Ter Multiple submitters Cockayne syndrome type 1
  • p.Glu13Ter Multiple submitters Cockayne syndrome type 1
  • p.Glu55fs Multiple submitters Cockayne syndrome type 1
  • p.Gly257Arg Multiple submitters Cockayne syndrome type 1
  • p.Met59Thr Multiple submitters UV-sensitive syndrome 2
  • p.Ser61Ter Multiple submitters UV-sensitive syndrome 2
  • p.Thr143fs Multiple submitters Cockayne syndrome type 1
  • p.Thr204_Ala205del Multiple submitters Cockayne syndrome
  • p.Trp107Ter Multiple submitters Cockayne syndrome type 1
  • p.Trp127fs Multiple submitters Cockayne syndrome type 1
  • p.Tyr58Ter Multiple submitters ERCC8-related disorder
  • p.Val161Ile Multiple submitters Cockayne syndrome ⚠
  • c.1042-1G>A No assertion criteria Cockayne syndrome type 1

Likely pathogenic 43

Conflicting classifications of pathogenicity 15

Benign 45

Benign/Likely benign 4

  • c.482-17C>T Multiple submitters
  • c.-23T>G Multiple submitters Cockayne syndrome type 1
  • c.*237T>C Multiple submitters Cockayne syndrome type 1
  • p.Val168= Multiple submitters Cockayne syndrome type 1

Likely benign 244

Uncertain significance 150