Sugi Variant

Sugi Variant/P2RY12

P2RY12 — 150 ClinVar variants

All ClinVar germline P2RY12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 5 Conflicting · 3 Benign · 4 Benign/Likely benign · 41 Likely benign · 92 Uncertain significance

Full P2RY12 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 2

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 63

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

Predictors split 20

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

All P2RY12 variants

Pathogenic 1

  • p.Ile240fs No assertion criteria platelet-type bleeding disorder 8

Pathogenic/Likely pathogenic 1

  • p.Arg265Pro Multiple submitters Impaired ADP-induced platelet aggregation ⚠

Likely pathogenic 3

  • p.Arg222fs Single submitter platelet-type bleeding disorder 8
  • p.Lys174Glu Single submitter Abnormal platelet function
  • p.His187Gln No assertion criteria P2RY12-related disorder

Conflicting classifications of pathogenicity 5

Benign 3

Benign/Likely benign 4

Likely benign 41

Uncertain significance 92