CASP7 — 55 ClinVar variants
All ClinVar germline CASP7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
2 Benign · 9 Likely benign · 44 Uncertain significance
Full CASP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CASP7 p.Ala164Val Uncertain significance Single submitter
- CASP7 p.Ala270Ser Uncertain significance Single submitter
- CASP7 p.Ala270Val Uncertain significance Single submitter
- CASP7 p.Arg210Gln Uncertain significance Single submitter
- CASP7 p.Arg28Gln Uncertain significance Single submitter
- CASP7 p.Arg52Gln Uncertain significance Single submitter
- CASP7 p.Asn61Lys Uncertain significance Single submitter
- CASP7 p.Asp121Glu Uncertain significance Single submitter
- CASP7 p.Asp15Val Uncertain significance Single submitter
- CASP7 p.Cys171Ser Uncertain significance Single submitter
- CASP7 p.Gln184Arg Uncertain significance Single submitter
- CASP7 p.Gln287Glu Uncertain significance Single submitter
- CASP7 p.Glu190Lys Uncertain significance Single submitter
- CASP7 p.Glu274Gly Uncertain significance Single submitter
- CASP7 p.Glu9Lys Uncertain significance Single submitter
- CASP7 p.Gly168Arg Uncertain significance Single submitter
- CASP7 p.Gly188Arg Uncertain significance Single submitter
- CASP7 p.Gly89Arg Uncertain significance Single submitter
- CASP7 p.His272Gln Uncertain significance Single submitter
- CASP7 p.Leu295Pro Uncertain significance Single submitter
- CASP7 p.Leu35Val Uncertain significance Single submitter
- CASP7 p.Leu97Phe Uncertain significance Single submitter
- CASP7 p.Lys99Arg Uncertain significance Single submitter
- CASP7 p.Met294Ile Uncertain significance Single submitter
- CASP7 p.Met45Thr Uncertain significance Single submitter
- CASP7 p.Phe273Leu Uncertain significance Single submitter
- CASP7 p.Pro227Leu Uncertain significance Single submitter
- CASP7 p.Pro227Ser Uncertain significance Single submitter
- CASP7 p.Pro289Ser Uncertain significance Single submitter
- CASP7 p.Pro289Thr Uncertain significance Single submitter
- CASP7 p.Pro33Leu Uncertain significance Single submitter
- CASP7 p.Ser231Leu Uncertain significance Single submitter
- CASP7 p.Ser30Leu Uncertain significance Single submitter
- CASP7 p.Ser37Gly Uncertain significance Single submitter
- CASP7 p.Thr225Met Uncertain significance Single submitter
- CASP7 p.Thr51Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CASP7 p.Asp169Asn Uncertain significance Single submitter
- CASP7 p.Ile288Met Uncertain significance Single submitter
- CASP7 p.Leu191Phe Uncertain significance Single submitter
- CASP7 p.Met259Leu Likely benign Single submitter
- CASP7 p.Met62Thr Uncertain significance Single submitter
- CASP7 p.Ser199Leu Uncertain significance Single submitter
- CASP7 p.Ser34Tyr Uncertain significance Single submitter
- CASP7 p.Val86Ile Uncertain significance Single submitter
- CASP7 p.Val86Phe Uncertain significance Single submitter
All CASP7 variants
Benign 2
- p.Asp255Glu Multiple submitters
- p.Arg167= Single submitter
Likely benign 9
- c.1-5463C>T Single submitter
- c.111-11664_111-11662del Single submitter
- p.Ala197= Single submitter
- p.Arg102Gln Single submitter
- p.His252= Single submitter
- p.Met259Leu Single submitter ⚠
- p.Phe181Leu Single submitter
- p.Pro289= Single submitter
- p.Ser247= Single submitter
Uncertain significance 44
- p.Ala164Val Single submitter ⚠
- p.Ala270Ser Single submitter ⚠
- p.Ala270Val Single submitter ⚠
- p.Arg210Gln Single submitter ⚠
- p.Arg28Gln Single submitter ⚠
- p.Arg52Gln Single submitter ⚠
- p.Asn61Lys Single submitter ⚠
- p.Asp121Glu Single submitter ⚠
- p.Asp15Val Single submitter ⚠
- p.Asp169Asn Single submitter ⚠
- p.Cys171Ser Single submitter ⚠
- p.Gln184Arg Single submitter ⚠
- p.Gln287Glu Single submitter ⚠
- p.Glu190Lys Single submitter ⚠
- p.Glu274Gly Single submitter ⚠
- p.Glu9Lys Single submitter ⚠
- p.Gly168Arg Single submitter ⚠
- p.Gly188Arg Single submitter ⚠
- p.Gly89Arg Single submitter ⚠
- p.His272Gln Single submitter ⚠
- p.Ile288Met Single submitter ⚠
- p.Leu191Phe Single submitter ⚠
- p.Leu295Pro Single submitter ⚠
- p.Leu35Val Single submitter ⚠
- p.Leu97Phe Single submitter ⚠
- p.Lys99Arg Single submitter ⚠
- p.Met294Ile Single submitter ⚠
- p.Met45Thr Single submitter ⚠
- p.Met62Thr Single submitter ⚠
- p.Phe273Leu Single submitter ⚠
- p.Pro227Leu Single submitter ⚠
- p.Pro227Ser Single submitter ⚠
- p.Pro289Ser Single submitter ⚠
- p.Pro289Thr Single submitter ⚠
- p.Pro33Leu Single submitter ⚠
- p.Ser199Leu Single submitter ⚠
- p.Ser231Leu Single submitter ⚠
- p.Ser30Leu Single submitter ⚠
- p.Ser34Tyr Single submitter ⚠
- p.Ser37Gly Single submitter ⚠
- p.Thr225Met Single submitter ⚠
- p.Thr51Ala Single submitter ⚠
- p.Val86Ile Single submitter ⚠
- p.Val86Phe Single submitter ⚠