Sugi Variant

Sugi Variant/MSRB3

MSRB3 — 128 ClinVar variants

All ClinVar germline MSRB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 8 Conflicting · 9 Benign · 5 Benign/Likely benign · 39 Likely benign · 57 Uncertain significance

Full MSRB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 49

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 32

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

Predictors split 15

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

All MSRB3 variants

Pathogenic 2

  • c.391-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 74
  • p.Arg19Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 74

Pathogenic/Likely pathogenic 1

  • p.Cys82Gly Multiple submitters autosomal recessive nonsyndromic hearing loss 74

Likely pathogenic 7

  • c.-147T>G Multiple submitters autosomal recessive nonsyndromic hearing loss 74
  • c.185+1G>T Single submitter
  • c.264-1G>A Single submitter Rare genetic deafness
  • c.293-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 74
  • p.Gly98Cys Single submitter autosomal recessive nonsyndromic hearing loss 74
  • p.Tyr150Ter Single submitter autosomal recessive nonsyndromic hearing loss 74
  • p.Gly136Arg No assertion criteria autosomal recessive nonsyndromic hearing loss 74

Conflicting classifications of pathogenicity 8

Benign 9

Benign/Likely benign 5

Likely benign 39

Uncertain significance 57