Sugi Variant

Sugi Variant/TAPT1

TAPT1 — 291 ClinVar variants

All ClinVar germline TAPT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

5 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 65 Benign · 9 Benign/Likely benign · 132 Likely benign · 73 Uncertain significance

Full TAPT1 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 2

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

Predictors lean, ClinVar uncertain 50

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

Predictors split 12

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

All TAPT1 variants

Pathogenic 5

  • c.846+2T>A Single submitter complex lethal osteochondrodysplasia
  • p.Ser269Ter Single submitter
  • p.Tyr248fs Single submitter
  • c.1108-1G>C No assertion criteria complex lethal osteochondrodysplasia
  • p.Asp353Val No assertion criteria complex lethal osteochondrodysplasia

Likely pathogenic 3

Conflicting classifications of pathogenicity 4

Benign 65

Benign/Likely benign 9

Likely benign 132

Uncertain significance 73