Sugi Variant

Sugi Variant/B4GALT1

B4GALT1 — 144 ClinVar variants

All ClinVar germline B4GALT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →

3 Pathogenic · 4 Conflicting · 17 Benign · 3 Benign/Likely benign · 43 Likely benign · 74 Uncertain significance

Full B4GALT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 70

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 25

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

Predictors split 43

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

All B4GALT1 variants

Pathogenic 3

  • p.Arg345fs No assertion criteria B4GALT1-congenital disorder of glycosylation
  • p.Asn352Ser No assertion criteria combined low LDL and fibrinogen ⚠
  • p.Tyr193Ter No assertion criteria B4GALT1-congenital disorder of glycosylation

Conflicting classifications of pathogenicity 4

Benign 17

Benign/Likely benign 3

  • c.960-12T>C Multiple submitters
  • p.Glu350= Multiple submitters B4GALT1-congenital disorder of glycosylation
  • p.His257Arg Multiple submitters Inborn genetic diseases

Likely benign 43

Uncertain significance 74