Sugi Variant

Sugi Variant/TKT

TKT — 117 ClinVar variants

All ClinVar germline TKT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 2 Conflicting · 11 Benign · 3 Benign/Likely benign · 25 Likely benign · 71 Uncertain significance

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

⚑ Evidence disagreements 65

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 48

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

Predictors split 16

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

All TKT variants

Pathogenic 2

  • p.Arg318Cys No assertion criteria transketolase deficiency
  • p.Trp211Ter No assertion criteria transketolase deficiency

Pathogenic/Likely pathogenic 1

Likely pathogenic 2

  • c.1697-1G>A Single submitter transketolase deficiency
  • p.Gln61Ter Single submitter transketolase deficiency

Conflicting classifications of pathogenicity 2

Benign 11

Benign/Likely benign 3

Likely benign 25

Uncertain significance 71