Sugi Variant

Sugi Variant/CRYAA

CRYAA — 112 ClinVar variants

All ClinVar germline CRYAA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →

6 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 4 Conflicting · 15 Benign · 1 Benign/Likely benign · 29 Likely benign · 52 Uncertain significance

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

⚑ Evidence disagreements 46

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 27

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

Predictors split 18

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

All CRYAA variants

Pathogenic 6

  • p.Arg116Cys Multiple submitters cataract 9 multiple types
  • p.Arg116His Multiple submitters cataract 9 multiple types
  • p.Arg116Ser Multiple submitters Inborn genetic diseases
  • p.Arg21Gln Multiple submitters cataract 9 multiple types ⚠
  • p.Arg54Cys Multiple submitters cataract 9 multiple types
  • p.Gly98Arg Multiple submitters cataract 9 multiple types

Pathogenic/Likely pathogenic 2

  • p.Arg12Cys Multiple submitters cataract 9 multiple types
  • p.Arg21Trp Multiple submitters cataract 9 multiple types

Likely pathogenic 3

Conflicting classifications of pathogenicity 4

Benign 15

Benign/Likely benign 1

  • p.Tyr109= Multiple submitters cataract 9 multiple types

Likely benign 29

Uncertain significance 52