Sugi Variant

Sugi Variant/PPP2CA

PPP2CA — 260 ClinVar variants

All ClinVar germline PPP2CA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

15 Pathogenic · 4 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 5 Conflicting · 7 Benign · 3 Benign/Likely benign · 118 Likely benign · 86 Uncertain significance

Full PPP2CA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 64

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 3

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 41

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

Predictors split 19

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

All PPP2CA variants

Pathogenic 15

Pathogenic/Likely pathogenic 4

  • p.Asp223His Multiple submitters Houge-Janssens syndrome 3
  • p.Asp88Gly Multiple submitters Houge-Janssens syndrome 3
  • p.Gln16Ter Multiple submitters Houge-Janssens syndrome 3
  • p.His191Arg Multiple submitters Houge-Janssens syndrome 3

Likely pathogenic 22

Conflicting classifications of pathogenicity 5

Benign 7

Benign/Likely benign 3

Likely benign 118

Uncertain significance 86