Sugi Variant

Sugi Variant/GP1BB

GP1BB — 159 ClinVar variants

All ClinVar germline GP1BB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

8 Pathogenic · 2 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 4 Conflicting · 4 Benign · 1 Benign/Likely benign · 25 Likely benign · 81 Uncertain significance

Full GP1BB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 46

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

Predictors split 21

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

All GP1BB variants

Pathogenic 8

  • p.Cys141Ter Expert panel Bernard-Soulier syndrome
  • p.Gly106fs Expert panel Bernard-Soulier syndrome
  • p.Trp148Ter Expert panel Bernard-Soulier syndrome
  • p.Ala8fs Single submitter Bernard-Soulier syndrome
  • p.Arg42fs Single submitter Bernard-Soulier syndrome
  • p.Met1Val Single submitter Bernard-Soulier syndrome
  • p.Ala133Pro No assertion criteria MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE ⚠
  • p.Glu109fs No assertion criteria Bernard-Soulier syndrome

Pathogenic/Likely pathogenic 2

  • p.Ala150fs Multiple submitters GP1BB-related disorders
  • p.Asp94Gly Multiple submitters Bernard-Soulier syndrome

Likely pathogenic 34

Conflicting classifications of pathogenicity 4

Benign 4

Benign/Likely benign 1

Likely benign 25

Uncertain significance 81