Sugi Variant

Sugi Variant/OTOA

OTOA — 778 ClinVar variants

All ClinVar germline OTOA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 227 flagged for review →

41 Pathogenic · 13 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 32 Conflicting · 53 Benign · 17 Benign/Likely benign · 357 Likely benign · 232 Uncertain significance

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

⚑ Evidence disagreements 227

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 15

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

Predictors lean, ClinVar uncertain 184

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 184

Predictors split 27

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

All OTOA variants

Pathogenic 41

Pathogenic/Likely pathogenic 13

  • c.1880+1G>A Multiple submitters Rare genetic deafness
  • c.399+2T>C Multiple submitters OTOA-related disorder
  • c.635+2T>A Multiple submitters autosomal recessive nonsyndromic hearing loss 22
  • c.92-1G>T Multiple submitters OTOA-related disorder
  • p.Arg146Ter Multiple submitters OTOA-related disorder
  • p.Gln589fs Multiple submitters OTOA-related disorder
  • p.Leu545fs Multiple submitters autosomal recessive nonsyndromic hearing loss 22
  • p.Phe191fs Multiple submitters autosomal recessive nonsyndromic hearing loss 22
  • p.Ser249fs Multiple submitters Rare genetic deafness
  • p.Ser269Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 22
  • p.Ser277fs Multiple submitters OTOA-related disorder
  • p.Trp252Ter Multiple submitters OTOA-related disorder
  • p.Gly451Asp No assertion criteria hearing loss, autosomal recessive

Likely pathogenic 33

Conflicting classifications of pathogenicity 32

Benign 53

Benign/Likely benign 17

Likely benign 357

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 232