PPP1CC — 12 ClinVar variants
All ClinVar germline PPP1CC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
12 Uncertain significance
Full PPP1CC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPP1CC p.Ala306Thr Uncertain significance Single submitter
- PPP1CC p.Arg43His Uncertain significance Single submitter
- PPP1CC p.Cys158Ser Uncertain significance Single submitter
- PPP1CC p.Gln185Leu Uncertain significance Single submitter
- PPP1CC p.Gly25Val Uncertain significance Single submitter
- PPP1CC p.Ile317Val Uncertain significance Single submitter
- PPP1CC p.Ile9Val Uncertain significance Single submitter
- PPP1CC p.Leu47Arg Uncertain significance Single submitter
- PPP1CC p.Phe170Leu Uncertain significance Single submitter
- PPP1CC p.Thr307Met Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All PPP1CC variants
Uncertain significance 12
- p.Ala306Thr Single submitter ⚠
- p.Arg43His Single submitter ⚠
- p.Cys158Ser Single submitter ⚠
- p.Gln185Leu Single submitter ⚠
- p.Gly25Val Single submitter ⚠
- p.Ile317Val Single submitter ⚠
- p.Ile9Val Single submitter ⚠
- p.Leu47Arg Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Met282Ile Single submitter ⚠
- p.Phe170Leu Single submitter ⚠
- p.Thr307Met Single submitter ⚠