Sugi Variant

Sugi Variant/THPO

THPO — 238 ClinVar variants

All ClinVar germline THPO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 18 Conflicting · 10 Benign · 6 Benign/Likely benign · 65 Likely benign · 123 Uncertain significance

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

⚑ Evidence disagreements 97

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 2

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

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 78

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

Predictors split 10

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

All THPO variants

Pathogenic 6

  • c.13+1G>T Single submitter
  • c.-324C>T Single submitter amegakaryocytic thrombocytopenia, congenital, 2
  • c.-47del Single submitter thrombocythemia 1
  • p.Arg38Cys Single submitter Inborn genetic diseases
  • p.Arg99Trp Single submitter thrombocytopenia 9 ⚠
  • p.Ser276fs No assertion criteria thrombocytopenia

Pathogenic/Likely pathogenic 1

  • c.13+1G>C Multiple submitters thrombocythemia 1

Likely pathogenic 9

Conflicting classifications of pathogenicity 18

Benign 10

Benign/Likely benign 6

Likely benign 65

Uncertain significance 123