CASP3 — 20 ClinVar variants

All ClinVar germline CASP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →

1 Benign · 4 Likely benign · 15 Uncertain significance

Full CASP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 14

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 lean, ClinVar uncertain 9

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

Predictors split 5

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

All CASP3 variants

Benign 1

c.*337T>C Multiple submitters

Likely benign 4

p.Arg101His Single submitter
p.Glu25Lys Single submitter
p.Leu230= Single submitter
p.Thr166= Single submitter

Uncertain significance 15

p.Ala254Thr Single submitter ⚠
p.Arg164Cys Single submitter ⚠
p.Arg79Ser Single submitter ⚠
p.Gln225Arg Single submitter ⚠
p.Glu98Gln Single submitter ⚠
p.Ile126Thr Single submitter ⚠
p.Ile48Val Single submitter ⚠
p.Lys224Glu Single submitter ⚠
p.Lys229Asn Single submitter ⚠
p.Met233Val Single submitter ⚠
p.Phe247Tyr Single submitter ⚠
p.Ser176del Single submitter
p.Thr255Ile Single submitter ⚠
p.Tyr276His Single submitter ⚠
p.Val8Met Single submitter ⚠