Sugi Variant

Sugi Variant/TALDO1

TALDO1 — 236 ClinVar variants

All ClinVar germline TALDO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

10 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 9 Conflicting · 5 Benign · 2 Benign/Likely benign · 88 Likely benign · 110 Uncertain significance

Full TALDO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 84

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 61

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

Predictors split 21

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

All TALDO1 variants

Pathogenic 10

Pathogenic/Likely pathogenic 2

  • p.Arg192His Multiple submitters transaldolase deficiency
  • p.Met234fs Multiple submitters TALDO1-related disorder

Likely pathogenic 10

Conflicting classifications of pathogenicity 9

  • c.461+14C>T Single submitter transaldolase deficiency
  • c.462-4G>A Single submitter transaldolase deficiency
  • c.-6C>T Single submitter transaldolase deficiency
  • p.Arg110= Single submitter Inborn genetic diseases
  • p.Asp310= Single submitter transaldolase deficiency
  • p.Gln159Arg Single submitter transaldolase deficiency ⚠
  • p.Glu12= Single submitter transaldolase deficiency
  • p.Ile66Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys19Gln Single submitter Inborn genetic diseases ⚠

Benign 5

Benign/Likely benign 2

  • p.Asn267= Multiple submitters transaldolase deficiency
  • p.Lys321Arg Multiple submitters transaldolase deficiency ⚠

Likely benign 88

Uncertain significance 110