Sugi Variant

Sugi Variant/GALT

GALT — 913 ClinVar variants

All ClinVar germline GALT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 258 flagged for review →

81 Pathogenic · 91 Pathogenic/Likely pathogenic · 143 Likely pathogenic · 76 Conflicting · 20 Benign · 6 Benign/Likely benign · 259 Likely benign · 237 Uncertain significance

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

⚑ Evidence disagreements 258

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 31

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 40

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

Predictors lean, ClinVar uncertain 118

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

Predictors split 69

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

All GALT variants

Pathogenic 81

Pathogenic/Likely pathogenic 91

Likely pathogenic 143

Conflicting classifications of pathogenicity 76

Benign 20

Benign/Likely benign 6

  • c.253-11C>T Multiple submitters classic galactosemia
  • c.508-24G>A Multiple submitters classic galactosemia
  • c.564+15G>A Multiple submitters classic galactosemia
  • p.His315= Multiple submitters classic galactosemia
  • p.Ser293= Multiple submitters classic galactosemia
  • p.Thr138= Multiple submitters classic galactosemia

Likely benign 259

Uncertain significance 237