PPP6C — 21 ClinVar variants
All ClinVar germline PPP6C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Benign · 1 Likely benign · 19 Uncertain significance
Full PPP6C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPP6C p.Asp169Gly Uncertain significance Single submitter
- PPP6C p.Asp5Glu Uncertain significance Single submitter
- PPP6C p.Asp7Glu Uncertain significance Single submitter
- PPP6C p.Cys51Tyr Uncertain significance Single submitter
- PPP6C p.Ile233Met Uncertain significance Single submitter
- PPP6C p.Lys231Asn Uncertain significance Single submitter
- PPP6C p.Pro168Ala Uncertain significance Single submitter
- PPP6C p.Thr131Asn Uncertain significance Single submitter
- PPP6C p.Thr299Met Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All PPP6C variants
Benign 1
- p.Asp203= Multiple submitters
Likely benign 1
- c.75+80C>T Single submitter
Uncertain significance 19
- c.75+23C>T Single submitter
- c.75+38G>A Single submitter
- c.75+47C>G Single submitter
- c.75+49G>A Single submitter
- c.75+50G>A Single submitter
- c.75+65C>T Single submitter
- c.75+67C>T Single submitter
- p.Asp169Gly Single submitter ⚠
- p.Asp5Glu Single submitter ⚠
- p.Asp7Glu Single submitter ⚠
- p.Cys51Tyr Single submitter ⚠
- p.Ile233Met Single submitter ⚠
- p.Leu61Val Single submitter
- p.Lys231Asn Single submitter ⚠
- p.Pro168Ala Single submitter ⚠
- p.Thr131Asn Single submitter ⚠
- p.Thr299Met Single submitter ⚠
- p.Thr92Ala Single submitter ⚠
- p.Tyr9Cys Single submitter