Sugi Variant

Sugi Variant/COL8A2

COL8A2 — 202 ClinVar variants

All ClinVar germline COL8A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →

3 Pathogenic · 1 Conflicting · 25 Benign · 9 Benign/Likely benign · 34 Likely benign · 130 Uncertain significance

Full COL8A2 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 2

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

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 95

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

Predictors split 31

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

All COL8A2 variants

Pathogenic 3

  • p.Leu450Trp Single submitter COL8A2-related disorder ⚠
  • p.Gln455Lys No assertion criteria corneal dystrophy, Fuchs endothelial, 1 ⚠
  • p.Gln455Val No assertion criteria corneal dystrophy, Fuchs endothelial, 1

Conflicting classifications of pathogenicity 1

Benign 25

Benign/Likely benign 9

Likely benign 34

Uncertain significance 130