Sugi Variant

Sugi Variant/TBXA2R

TBXA2R — 245 ClinVar variants

All ClinVar germline TBXA2R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

4 Likely pathogenic · 4 Conflicting · 22 Benign · 3 Benign/Likely benign · 66 Likely benign · 146 Uncertain significance

Full TBXA2R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 128

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 1

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

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 72

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

Predictors split 53

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

All TBXA2R variants

Likely pathogenic 4

  • c.787-2A>G Single submitter Abnormal platelet aggregation
  • p.Pro28Ser Single submitter ⚠
  • p.Ser139Ter Single submitter bleeding disorder, platelet-type, 13, susceptibility to
  • p.Cys183Tyr No assertion criteria bleeding disorder, platelet-type, 13, susceptibility to

Conflicting classifications of pathogenicity 4

  • p.Ala160Thr Single submitter ⚠
  • p.Ala279Thr Single submitter Inborn genetic diseases ⚠
  • p.Asp238Gly Single submitter Impaired thromboxane A2 agonist-induced platelet aggregation ⚠
  • p.Gly280= Single submitter bleeding disorder, platelet-type, 13, susceptibility to

Benign 22

Benign/Likely benign 3

Likely benign 66

Uncertain significance 146