Sugi Variant

Sugi Variant/DACT1

DACT1 — 225 ClinVar variants

All ClinVar germline DACT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 172 flagged for review →

5 Pathogenic · 3 Likely pathogenic · 8 Conflicting · 17 Benign · 1 Benign/Likely benign · 32 Likely benign · 159 Uncertain significance

Full DACT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 172

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 4

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

Predictors lean, ClinVar uncertain 110

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

Predictors split 56

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

All DACT1 variants

Pathogenic 5

Likely pathogenic 3

  • p.Ser454fs Single submitter
  • p.Leu255= No assertion criteria Townes-Brocks syndrome 2
  • p.Trp290fs No assertion criteria DACT1-related neural tube defects

Conflicting classifications of pathogenicity 8

Benign 17

Benign/Likely benign 1

  • p.Glu257Lys Multiple submitters Townes-Brocks syndrome 2

Likely benign 32

Uncertain significance 159