Sugi Variant

Sugi Variant/TAT

TAT — 375 ClinVar variants

All ClinVar germline TAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

17 Pathogenic · 9 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 7 Conflicting · 9 Benign · 3 Benign/Likely benign · 219 Likely benign · 83 Uncertain significance

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

⚑ Evidence disagreements 50

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 1

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

Predictors lean, ClinVar uncertain 40

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

Predictors split 9

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

All TAT variants

Pathogenic 17

Pathogenic/Likely pathogenic 9

Likely pathogenic 28

Conflicting classifications of pathogenicity 7

Benign 9

Benign/Likely benign 3

  • c.*110C>T Multiple submitters tyrosinemia type II
  • p.Asn414= Multiple submitters tyrosinemia type II
  • p.Thr268= Multiple submitters Inborn genetic diseases

Likely benign 219

Uncertain significance 83