Sugi Variant

Sugi Variant/CRYGC

CRYGC — 94 ClinVar variants

All ClinVar germline CRYGC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

10 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 4 Conflicting · 7 Benign · 3 Benign/Likely benign · 11 Likely benign · 52 Uncertain significance

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

⚑ Evidence disagreements 50

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 1

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

Predictors lean, ClinVar uncertain 17

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

Predictors split 32

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

All CRYGC variants

Pathogenic 10

Pathogenic/Likely pathogenic 1

  • p.Trp157Ter Multiple submitters cataract 2, multiple types

Likely pathogenic 6

Conflicting classifications of pathogenicity 4

Benign 7

Benign/Likely benign 3

  • p.Pro28= Multiple submitters Nuclear pulverulent cataract
  • p.Ser106Asn Multiple submitters Nuclear pulverulent cataract
  • p.Ser119= Multiple submitters Nuclear pulverulent cataract

Likely benign 11

Uncertain significance 52