Sugi Variant

Sugi Variant/BSND

BSND — 387 ClinVar variants

All ClinVar germline BSND variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →

16 Pathogenic · 12 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 23 Conflicting · 19 Benign · 7 Benign/Likely benign · 171 Likely benign · 129 Uncertain significance

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

⚑ Evidence disagreements 125

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 13

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

Predictors lean, ClinVar uncertain 87

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

Predictors split 23

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

All BSND variants

Pathogenic 16

Pathogenic/Likely pathogenic 12

Likely pathogenic 10

Conflicting classifications of pathogenicity 23

Benign 19

Benign/Likely benign 7

  • c.177+15G>C Multiple submitters Bartter disease type 4A
  • c.-25C>T Multiple submitters Bartter disease type 4A
  • p.Asp153= Multiple submitters Bartter disease type 4A
  • p.Asp199= Multiple submitters Bartter disease type 4A
  • p.Gly47= Multiple submitters Bartter syndrome
  • p.Val43Ile Multiple submitters Bartter disease type 4A
  • p.Val63= Multiple submitters Bartter disease type 4A

Likely benign 171

Uncertain significance 129