PPP3CB — 17 ClinVar variants
All ClinVar germline PPP3CB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
17 Uncertain significance
Full PPP3CB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPP3CB p.Ala292Ser Uncertain significance Single submitter
- PPP3CB p.Ala498Ser Uncertain significance Single submitter
- PPP3CB p.Ala510Thr Uncertain significance Single submitter
- PPP3CB p.Ala510Val Uncertain significance Single submitter
- PPP3CB p.Arg223Thr Uncertain significance Single submitter
- PPP3CB p.Asn489His Uncertain significance Single submitter
- PPP3CB p.Gly517Glu Uncertain significance Single submitter
- PPP3CB p.Ile461Val Uncertain significance Single submitter
- PPP3CB p.Thr509Ala Uncertain significance Single submitter
- PPP3CB p.Thr518Met Uncertain significance Single submitter
- PPP3CB p.Val52Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- PPP3CB p.Arg82Gln Uncertain significance Single submitter
- PPP3CB p.Asp47Val Uncertain significance Single submitter
- PPP3CB p.Ile314Val Uncertain significance Single submitter
- PPP3CB p.Met87Ile Uncertain significance Single submitter
- PPP3CB p.Phe32Ser Uncertain significance Single submitter
- PPP3CB p.Thr217Ala Uncertain significance Single submitter
All PPP3CB variants
Uncertain significance 17
- p.Ala292Ser Single submitter ⚠
- p.Ala498Ser Single submitter ⚠
- p.Ala510Thr Single submitter ⚠
- p.Ala510Val Single submitter ⚠
- p.Arg223Thr Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Asn489His Single submitter ⚠
- p.Asp47Val Single submitter ⚠
- p.Gly517Glu Single submitter ⚠
- p.Ile314Val Single submitter ⚠
- p.Ile461Val Single submitter ⚠
- p.Met87Ile Single submitter ⚠
- p.Phe32Ser Single submitter ⚠
- p.Thr217Ala Single submitter ⚠
- p.Thr509Ala Single submitter ⚠
- p.Thr518Met Single submitter ⚠
- p.Val52Ile Single submitter ⚠