Sugi Variant

Sugi Variant/SERPINB6

SERPINB6 — 214 ClinVar variants

All ClinVar germline SERPINB6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 13 Conflicting · 34 Benign · 5 Benign/Likely benign · 64 Likely benign · 94 Uncertain significance

Full SERPINB6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 83

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 6

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

Predictors lean, ClinVar uncertain 54

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 SERPINB6 variants

Pathogenic 1

  • p.Glu245Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 91

Likely pathogenic 3

  • p.Gln73Ter Single submitter autosomal recessive nonsyndromic hearing loss 91
  • p.Glu227Ter Single submitter Rare genetic deafness
  • p.Met1Ile Single submitter autosomal recessive nonsyndromic hearing loss 91

Conflicting classifications of pathogenicity 13

Benign 34

Benign/Likely benign 5

Likely benign 64

Uncertain significance 94