Sugi Variant

Sugi Variant/BVES

BVES — 22 ClinVar variants

All ClinVar germline BVES variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →

3 Pathogenic · 2 Likely pathogenic · 4 Benign · 4 Likely benign · 9 Uncertain significance

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

⚑ Evidence disagreements 9

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 lean, ClinVar uncertain 7

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

Predictors split 2

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

All BVES variants

Pathogenic 3

  • c.816+2T>C No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2X
  • p.Ile193Ser No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2X
  • p.Met1Val No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2X

Likely pathogenic 2

Benign 4

Likely benign 4

Uncertain significance 9