Sugi Variant

Sugi Variant/PPP1CB

PPP1CB — 358 ClinVar variants

All ClinVar germline PPP1CB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

4 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 7 Conflicting · 18 Benign · 5 Benign/Likely benign · 213 Likely benign · 101 Uncertain significance

Full PPP1CB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 86

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 59

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 26

The independent predictors disagree with each other — read with care.

All PPP1CB variants

Pathogenic 4

Pathogenic/Likely pathogenic 2

  • p.Arg220Cys Multiple submitters Noonan syndrome-like disorder with loose anagen hair 2
  • p.Met182Lys Multiple submitters Noonan syndrome

Likely pathogenic 8

Conflicting classifications of pathogenicity 7

Benign 18

Benign/Likely benign 5

Likely benign 213

Uncertain significance 101