CASP1 — 64 ClinVar variants
All ClinVar germline CASP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
3 Benign · 12 Likely benign · 49 Uncertain significance
Full CASP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CASP1 p.Ala141Gly Uncertain significance Single submitter
- CASP1 p.Ala141Thr Uncertain significance Single submitter
- CASP1 p.Ala217Ser Uncertain significance Single submitter
- CASP1 p.Arg15Cys Uncertain significance Single submitter
- CASP1 p.Arg33Ser Uncertain significance Single submitter
- CASP1 p.Glu311Gly Uncertain significance Single submitter
- CASP1 p.Gly346Ser Uncertain significance Single submitter
- CASP1 p.His220Arg Uncertain significance Single submitter
- CASP1 p.His237Tyr Uncertain significance Single submitter
- CASP1 p.Ile282Thr Uncertain significance Single submitter
- CASP1 p.Leu99Arg Uncertain significance Single submitter
- CASP1 p.Met156Thr Uncertain significance Single submitter
- CASP1 p.Met211Thr Uncertain significance Single submitter
- CASP1 p.Met386Arg Uncertain significance Single submitter
- CASP1 p.Pro124Arg Uncertain significance Single submitter
- CASP1 p.Pro124Ser Uncertain significance Single submitter
- CASP1 p.Pro277Leu Uncertain significance Single submitter
- CASP1 p.Pro290Ser Uncertain significance Single submitter
- CASP1 p.Pro343Thr Uncertain significance Single submitter
- CASP1 p.Ser160Arg Uncertain significance Single submitter
- CASP1 p.Ser160Asn Uncertain significance Single submitter
- CASP1 p.Ser363Cys Uncertain significance Single submitter
- CASP1 p.Thr32Ser Uncertain significance Single submitter
- CASP1 p.Thr86Met Uncertain significance Single submitter
- CASP1 p.Val252Ala Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- CASP1 p.Ala84Ser Uncertain significance Single submitter
- CASP1 p.Arg161Cys Uncertain significance Single submitter
- CASP1 p.Arg240Trp Uncertain significance Single submitter
- CASP1 p.Arg371His Uncertain significance Single submitter
- CASP1 p.Asp80Glu Uncertain significance Single submitter
- CASP1 p.Glu355Asp Uncertain significance Single submitter
- CASP1 p.Ile255Met Uncertain significance Single submitter
- CASP1 p.Ile255Thr Uncertain significance Single submitter
- CASP1 p.Ile281Val Uncertain significance Single submitter
- CASP1 p.Ile328Phe Uncertain significance Single submitter
- CASP1 p.Leu166Val Uncertain significance Single submitter
- CASP1 p.Leu206Phe Uncertain significance Single submitter
- CASP1 p.Lys158Glu Uncertain significance Single submitter
- CASP1 p.Lys203Glu Uncertain significance Single submitter
- CASP1 p.Met189Leu Uncertain significance Single submitter
- CASP1 p.Met211Ile Uncertain significance Single submitter
- CASP1 p.Met211Val Uncertain significance Single submitter
- CASP1 p.Ser110Phe Uncertain significance Single submitter
- CASP1 p.Ser149Leu Uncertain significance Single submitter
- CASP1 p.Ser363Phe Uncertain significance Single submitter
- CASP1 p.Thr207Ile Uncertain significance Single submitter
- CASP1 p.Val133Ala Uncertain significance Single submitter
- CASP1 p.Val279Leu Uncertain significance Single submitter
- CASP1 p.Val279Met Uncertain significance Single submitter
- CASP1 p.Val61Ile Benign Single submitter
-
CASP1 p.Arg221Cys
Likely benign
No assertion criteria
CASP1-related disorder
All CASP1 variants
Benign 3
- p.Arg143= Multiple submitters
- p.Lys37Gln Multiple submitters
- p.Val61Ile Single submitter ⚠
Likely benign 12
- p.Ile328= Multiple submitters
- p.Ala384Val Single submitter
- p.Asn259= Single submitter
- p.Cys72Phe Single submitter
- p.Glu216Lys Single submitter
- p.Glu223= Single submitter
- p.His404Tyr Single submitter
- p.Met357Leu Single submitter
- p.Thr32Lys Single submitter
- p.Val348Leu Single submitter
- p.Arg221Cys No assertion criteria CASP1-related disorder ⚠
- p.Arg240Gln No assertion criteria CASP1-related disorder
Uncertain significance 49
- p.Ala141Gly Single submitter ⚠
- p.Ala141Thr Single submitter ⚠
- p.Ala217Ser Single submitter ⚠
- p.Ala84Ser Single submitter ⚠
- p.Arg15Cys Single submitter ⚠
- p.Arg161Cys Single submitter ⚠
- p.Arg240Trp Single submitter ⚠
- p.Arg33Ser Single submitter ⚠
- p.Arg371His Single submitter ⚠
- p.Asp80Glu Single submitter ⚠
- p.Glu311Gly Single submitter ⚠
- p.Glu355Asp Single submitter ⚠
- p.Gly346Ser Single submitter ⚠
- p.His220Arg Single submitter ⚠
- p.His237Tyr Single submitter ⚠
- p.Ile255Met Single submitter ⚠
- p.Ile255Thr Single submitter ⚠
- p.Ile281Val Single submitter ⚠
- p.Ile282Thr Single submitter ⚠
- p.Ile328Phe Single submitter ⚠
- p.Leu166Val Single submitter ⚠
- p.Leu206Phe Single submitter ⚠
- p.Leu99Arg Single submitter ⚠
- p.Lys158Glu Single submitter ⚠
- p.Lys203Glu Single submitter ⚠
- p.Met156Thr Single submitter ⚠
- p.Met189Leu Single submitter ⚠
- p.Met211Ile Single submitter ⚠
- p.Met211Thr Single submitter ⚠
- p.Met211Val Single submitter ⚠
- p.Met386Arg Single submitter ⚠
- p.Pro124Arg Single submitter ⚠
- p.Pro124Ser Single submitter ⚠
- p.Pro277Leu Single submitter ⚠
- p.Pro290Ser Single submitter ⚠
- p.Pro343Thr Single submitter ⚠
- p.Ser110Phe Single submitter ⚠
- p.Ser149Leu Single submitter ⚠
- p.Ser160Arg Single submitter ⚠
- p.Ser160Asn Single submitter ⚠
- p.Ser363Cys Single submitter ⚠
- p.Ser363Phe Single submitter ⚠
- p.Thr207Ile Single submitter ⚠
- p.Thr32Ser Single submitter ⚠
- p.Thr86Met Single submitter ⚠
- p.Val133Ala Single submitter ⚠
- p.Val252Ala Single submitter ⚠
- p.Val279Leu Single submitter ⚠
- p.Val279Met Single submitter ⚠