Sugi Variant

Sugi Variant/OTOG

OTOG — 1609 ClinVar variants

All ClinVar germline OTOG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 487 flagged for review →

49 Pathogenic · 27 Pathogenic/Likely pathogenic · 67 Likely pathogenic · 99 Conflicting · 178 Benign · 65 Benign/Likely benign · 485 Likely benign · 639 Uncertain significance

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

⚑ Evidence disagreements 487

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 51

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

Predictors lean, ClinVar uncertain 396

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 396

Predictors split 39

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

All OTOG variants

Pathogenic 49

Pathogenic/Likely pathogenic 27

  • p.Ala1503fs Multiple submitters autosomal recessive nonsyndromic hearing loss 18B
  • p.Ala2452fs Multiple submitters OTOG-related disorder
  • p.Arg1063Ter Multiple submitters Rare genetic deafness
  • p.Arg1153Ter Multiple submitters OTOG-related disorder
  • p.Arg1222Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 18B
  • p.Arg1225fs Multiple submitters autosomal recessive nonsyndromic hearing loss 18B
  • p.Arg1903Ter Multiple submitters OTOG-related disorder
  • p.Arg2175Ter Multiple submitters OTOG-related disorder
  • p.Arg2473fs Multiple submitters autosomal recessive nonsyndromic hearing loss 18B
  • p.Arg2473Ter Multiple submitters OTOG-related disorder
  • p.Asp2241fs Multiple submitters OTOG-related disorder
  • p.Asp252fs Multiple submitters
  • p.Asp947fs Multiple submitters
  • p.Gln127Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 18B
  • p.Gln145fs Multiple submitters
  • p.Gln1686Ter Multiple submitters OTOG-related disorder
  • p.Gln1916fs Multiple submitters
  • p.Gln556Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 18B
  • p.Gln822Ter Multiple submitters Monogenic hearing loss
  • p.Glu707fs Multiple submitters Rare genetic deafness
  • p.Gly1553Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 18B
  • p.Met1979fs Multiple submitters autosomal recessive nonsyndromic hearing loss 18B
  • p.Trp1062Ter Multiple submitters OTOG-related disorder
  • p.Trp669Ter Multiple submitters OTOG-related disorder
  • p.Tyr818Ter Multiple submitters OTOG-related disorder
  • p.Val167fs Multiple submitters Rare genetic deafness
  • p.Cys2400fs No assertion criteria hearing loss, autosomal recessive

Likely pathogenic 67

Conflicting classifications of pathogenicity 99

Benign 178

Benign/Likely benign 65

Likely benign 485

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

Uncertain significance 639

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