CASC3 — 86 ClinVar variants
All ClinVar germline CASC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
4 Likely benign · 82 Uncertain significance
Full CASC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CASC3 p.Ala247Val Uncertain significance Single submitter
- CASC3 p.Ala380Gly Uncertain significance Single submitter
- CASC3 p.Ala618Val Uncertain significance Single submitter
- CASC3 p.Ala641Thr Uncertain significance Single submitter
- CASC3 p.Ala670Thr Uncertain significance Single submitter
- CASC3 p.Ala72Ser Uncertain significance Single submitter
- CASC3 p.Arg207His Uncertain significance Single submitter
- CASC3 p.Arg217His Uncertain significance Single submitter
- CASC3 p.Arg217Leu Uncertain significance Single submitter
- CASC3 p.Arg283Gly Uncertain significance Single submitter
- CASC3 p.Arg409Lys Uncertain significance Single submitter
- CASC3 p.Arg508Gln Uncertain significance Single submitter
- CASC3 p.Asn160Ser Uncertain significance Single submitter
- CASC3 p.Asn249Lys Uncertain significance Single submitter
- CASC3 p.Asn274Ser Uncertain significance Single submitter
- CASC3 p.Asn629His Uncertain significance Single submitter
- CASC3 p.Asp121Val Uncertain significance Single submitter
- CASC3 p.Asp367Gly Uncertain significance Single submitter
- CASC3 p.Gln285His Uncertain significance Single submitter
- CASC3 p.Gln468His Uncertain significance Single submitter
- CASC3 p.Gln7Arg Uncertain significance Single submitter
- CASC3 p.Glu439Gly Uncertain significance Single submitter
- CASC3 p.Glu74Asp Uncertain significance Single submitter
- CASC3 p.Glu74Gly Uncertain significance Single submitter
- CASC3 p.Gly132Glu Uncertain significance Single submitter
- CASC3 p.Gly26Ser Uncertain significance Single submitter
- CASC3 p.Gly289Asp Uncertain significance Single submitter
- CASC3 p.Gly332Asp Uncertain significance Single submitter
- CASC3 p.Gly340Val Uncertain significance Single submitter
- CASC3 p.Gly449Glu Uncertain significance Single submitter
- CASC3 p.Gly67Arg Uncertain significance Single submitter
- CASC3 p.His588Gln Uncertain significance Single submitter
- CASC3 p.Ile471Met Uncertain significance Single submitter
- CASC3 p.Ile690Val Uncertain significance Single submitter
- CASC3 p.Lys419Gln Uncertain significance Single submitter
- CASC3 p.Met307Thr Uncertain significance Single submitter
- CASC3 p.Met606Val Uncertain significance Single submitter
- CASC3 p.Met628Leu Uncertain significance Single submitter
- CASC3 p.Pro230Thr Uncertain significance Single submitter
- CASC3 p.Pro271Gln Uncertain significance Single submitter
- CASC3 p.Pro392Ser Uncertain significance Single submitter
- CASC3 p.Pro395Ala Uncertain significance Single submitter
- CASC3 p.Pro444Leu Uncertain significance Single submitter
- CASC3 p.Ser281Phe Uncertain significance Single submitter
- CASC3 p.Ser39Gly Uncertain significance Single submitter
- CASC3 p.Ser607Thr Uncertain significance Single submitter
- CASC3 p.Thr197Pro Uncertain significance Single submitter
- CASC3 p.Thr620Ala Uncertain significance Single submitter
- CASC3 p.Thr684Ala Uncertain significance Single submitter
- CASC3 p.Tyr181Cys Uncertain significance Single submitter
- CASC3 p.Tyr558Cys Uncertain significance Single submitter
- CASC3 p.Val538Leu Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- CASC3 p.Ala472Val Uncertain significance Single submitter
- CASC3 p.Arg283Cys Uncertain significance Single submitter
- CASC3 p.Arg299Ser Uncertain significance Single submitter
- CASC3 p.Arg338Trp Uncertain significance Single submitter
- CASC3 p.Arg352Trp Uncertain significance Single submitter
- CASC3 p.Arg353His Uncertain significance Single submitter
- CASC3 p.Arg406Gln Uncertain significance Single submitter
- CASC3 p.Arg528Ser Uncertain significance Single submitter
- CASC3 p.Arg682Gln Uncertain significance Single submitter
- CASC3 p.Asp24His Uncertain significance Single submitter
- CASC3 p.Gln7His Uncertain significance Single submitter
- CASC3 p.Glu76Ala Uncertain significance Single submitter
- CASC3 p.Glu99Lys Uncertain significance Single submitter
- CASC3 p.Gly22Ala Uncertain significance Single submitter
- CASC3 p.Gly318Val Uncertain significance Single submitter
- CASC3 p.Gly516Arg Uncertain significance Single submitter
- CASC3 p.Leu59Phe Uncertain significance Single submitter
- CASC3 p.Lys320Met Uncertain significance Single submitter
- CASC3 p.Pro328Leu Uncertain significance Single submitter
- CASC3 p.Pro534Ser Uncertain significance Single submitter
- CASC3 p.Pro536Leu Uncertain significance Single submitter
- CASC3 p.Pro625Ser Uncertain significance Single submitter
- CASC3 p.Pro646Gln Uncertain significance Single submitter
- CASC3 p.Pro657Ser Uncertain significance Single submitter
- CASC3 p.Ser23Thr Uncertain significance Single submitter
- CASC3 p.Ser308Cys Uncertain significance Single submitter
- CASC3 p.Ser75Leu Uncertain significance Single submitter
- CASC3 p.Ser75Trp Uncertain significance Single submitter
- CASC3 p.Ser79Asn Uncertain significance Single submitter
- CASC3 p.Val162Met Uncertain significance Single submitter
All CASC3 variants
Likely benign 4
- p.Leu617Phe Single submitter
- p.Pro669= Single submitter
- p.Val329Met Single submitter
- p.Val414Ala Single submitter
Uncertain significance 82
- p.Ala247Val Single submitter ⚠
- p.Ala380Gly Single submitter ⚠
- p.Ala472Val Single submitter ⚠
- p.Ala618Val Single submitter ⚠
- p.Ala641Thr Single submitter ⚠
- p.Ala670Thr Single submitter ⚠
- p.Ala72Ser Single submitter ⚠
- p.Arg207His Single submitter ⚠
- p.Arg217His Single submitter ⚠
- p.Arg217Leu Single submitter ⚠
- p.Arg283Cys Single submitter ⚠
- p.Arg283Gly Single submitter ⚠
- p.Arg299Ser Single submitter ⚠
- p.Arg338Trp Single submitter ⚠
- p.Arg352Trp Single submitter ⚠
- p.Arg353His Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Arg409Lys Single submitter ⚠
- p.Arg508Gln Single submitter ⚠
- p.Arg528Ser Single submitter ⚠
- p.Arg682Gln Single submitter ⚠
- p.Asn160Ser Single submitter ⚠
- p.Asn249Lys Single submitter ⚠
- p.Asn274Ser Single submitter ⚠
- p.Asn629His Single submitter ⚠
- p.Asp121Val Single submitter ⚠
- p.Asp24His Single submitter ⚠
- p.Asp367Gly Single submitter ⚠
- p.Gln285His Single submitter ⚠
- p.Gln468His Single submitter ⚠
- p.Gln7Arg Single submitter ⚠
- p.Gln7His Single submitter ⚠
- p.Glu439Gly Single submitter ⚠
- p.Glu74Asp Single submitter ⚠
- p.Glu74Gly Single submitter ⚠
- p.Glu76Ala Single submitter ⚠
- p.Glu99Lys Single submitter ⚠
- p.Gly132Glu Single submitter ⚠
- p.Gly22Ala Single submitter ⚠
- p.Gly26Ser Single submitter ⚠
- p.Gly289Asp Single submitter ⚠
- p.Gly318Val Single submitter ⚠
- p.Gly332Asp Single submitter ⚠
- p.Gly340Val Single submitter ⚠
- p.Gly449Glu Single submitter ⚠
- p.Gly516Arg Single submitter ⚠
- p.Gly67Arg Single submitter ⚠
- p.His588Gln Single submitter ⚠
- p.Ile471Met Single submitter ⚠
- p.Ile690Val Single submitter ⚠
- p.Leu59Phe Single submitter ⚠
- p.Lys320Met Single submitter ⚠
- p.Lys419Gln Single submitter ⚠
- p.Met307Thr Single submitter ⚠
- p.Met606Val Single submitter ⚠
- p.Met628Leu Single submitter ⚠
- p.Pro230Thr Single submitter ⚠
- p.Pro271Gln Single submitter ⚠
- p.Pro328Leu Single submitter ⚠
- p.Pro392Ser Single submitter ⚠
- p.Pro395Ala Single submitter ⚠
- p.Pro444Leu Single submitter ⚠
- p.Pro534Ser Single submitter ⚠
- p.Pro536Leu Single submitter ⚠
- p.Pro625Ser Single submitter ⚠
- p.Pro646Gln Single submitter ⚠
- p.Pro657Ser Single submitter ⚠
- p.Ser23Thr Single submitter ⚠
- p.Ser281Phe Single submitter ⚠
- p.Ser308Cys Single submitter ⚠
- p.Ser39Gly Single submitter ⚠
- p.Ser607Thr Single submitter ⚠
- p.Ser75Leu Single submitter ⚠
- p.Ser75Trp Single submitter ⚠
- p.Ser79Asn Single submitter ⚠
- p.Thr197Pro Single submitter ⚠
- p.Thr620Ala Single submitter ⚠
- p.Thr684Ala Single submitter ⚠
- p.Tyr181Cys Single submitter ⚠
- p.Tyr558Cys Single submitter ⚠
- p.Val162Met Single submitter ⚠
- p.Val538Leu Single submitter ⚠