Sugi Variant

Sugi Variant/B3GLCT

B3GLCT — 345 ClinVar variants

All ClinVar germline B3GLCT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →

11 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 13 Conflicting · 56 Benign · 7 Benign/Likely benign · 80 Likely benign · 167 Uncertain significance

Full B3GLCT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 115

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 60

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

Predictors split 54

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

All B3GLCT variants

Pathogenic 11

Pathogenic/Likely pathogenic 2

  • c.459+1G>A Multiple submitters Inborn genetic diseases
  • p.Tyr380Ter Multiple submitters Peters plus syndrome

Likely pathogenic 9

Conflicting classifications of pathogenicity 13

Benign 56

Benign/Likely benign 7

Likely benign 80

Uncertain significance 167