PPP1CA — 23 ClinVar variants
All ClinVar germline PPP1CA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
1 Likely benign · 22 Uncertain significance
Full PPP1CA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPP1CA p.Ala326Thr Uncertain significance Single submitter
- PPP1CA p.Arg261Gln Uncertain significance Single submitter
- PPP1CA p.Arg323Cys Uncertain significance Single submitter
- PPP1CA p.Asn145Ser Uncertain significance Single submitter
- PPP1CA p.Asn278Ser Uncertain significance Single submitter
- PPP1CA p.Asp212Tyr Uncertain significance Single submitter
- PPP1CA p.Asp240Asn Uncertain significance Single submitter
- PPP1CA p.Asp300Asn Uncertain significance Single submitter
- PPP1CA p.Glu184Ala Uncertain significance Single submitter
- PPP1CA p.Glu287Asp Uncertain significance Single submitter
- PPP1CA p.Ile164Thr Uncertain significance Single submitter
- PPP1CA p.Ile45Phe Uncertain significance Single submitter
- PPP1CA p.Met282Thr Uncertain significance Single submitter
- PPP1CA p.Tyr87Cys Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- PPP1CA p.Arg187Trp Uncertain significance Single submitter
- PPP1CA p.Arg323His Uncertain significance Single submitter
- PPP1CA p.Lys113Arg Uncertain significance Single submitter
- PPP1CA p.Lys26Arg Uncertain significance Single submitter
- PPP1CA p.Met183Val Uncertain significance Single submitter
- PPP1CA p.Pro115Arg Uncertain significance Single submitter
All PPP1CA variants
Likely benign 1
- p.Asn33= Single submitter
Uncertain significance 22
- c.56-31T>C Single submitter
- p.Ala326Thr Single submitter ⚠
- p.Arg187Trp Single submitter ⚠
- p.Arg261Gln Single submitter ⚠
- p.Arg323Cys Single submitter ⚠
- p.Arg323His Single submitter ⚠
- p.Asn145Ser Single submitter ⚠
- p.Asn278Ser Single submitter ⚠
- p.Asp212Tyr Single submitter ⚠
- p.Asp240Asn Single submitter ⚠
- p.Asp300Asn Single submitter ⚠
- p.Glu184Ala Single submitter ⚠
- p.Glu287Asp Single submitter ⚠
- p.Glu56Gly Single submitter
- p.Ile164Thr Single submitter ⚠
- p.Ile45Phe Single submitter ⚠
- p.Lys113Arg Single submitter ⚠
- p.Lys26Arg Single submitter ⚠
- p.Met183Val Single submitter ⚠
- p.Met282Thr Single submitter ⚠
- p.Pro115Arg Single submitter ⚠
- p.Tyr87Cys Single submitter ⚠