Sugi Variant

Sugi Variant/COCH

COCH — 336 ClinVar variants

All ClinVar germline COCH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

19 Pathogenic · 4 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 22 Conflicting · 42 Benign · 6 Benign/Likely benign · 66 Likely benign · 165 Uncertain significance

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

⚑ Evidence disagreements 157

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 5

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

Predictors lean, ClinVar uncertain 93

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

Predictors split 58

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

All COCH variants

Pathogenic 19

  • p.Pro51Ser Expert panel nonsyndromic genetic hearing loss ⚠
  • p.Cys542Arg Multiple submitters Bilateral sensorineural hearing impairment
  • p.Cys542Phe Multiple submitters Rare genetic deafness
  • p.Phe121Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 9
  • p.Ser381delinsArgTer Multiple submitters hearing loss, autosomal recessive 110
  • p.Arg263fs Single submitter
  • p.Cys542Tyr Single submitter autosomal dominant nonsyndromic hearing loss 9
  • p.Gln313Ter Single submitter
  • p.Ile109Asn Single submitter autosomal dominant nonsyndromic hearing loss 9
  • p.Ile372fs Single submitter
  • p.Leu114Pro Single submitter autosomal dominant nonsyndromic hearing loss 9
  • p.Lys349fs Single submitter Genetic hearing loss
  • p.Ser425fs Single submitter hearing loss, autosomal recessive 110
  • p.Thr145fs Single submitter
  • p.Tyr101fs Single submitter
  • p.Leu387Phe No assertion criteria autosomal dominant nonsyndromic hearing loss 9
  • p.Met512Thr No assertion criteria autosomal dominant nonsyndromic hearing loss 9
  • p.Phe329fs No assertion criteria hearing loss, autosomal recessive 110
  • p.Val66Gly No assertion criteria autosomal dominant nonsyndromic hearing loss 9 ⚠

Pathogenic/Likely pathogenic 4

  • p.Arg180Ter Multiple submitters hearing loss, autosomal recessive 110
  • p.Arg91Ter Multiple submitters hearing loss, autosomal recessive 110
  • p.Trp117Arg Multiple submitters Genetic hearing loss
  • p.Gly87Trp No assertion criteria

Likely pathogenic 12

  • p.Gly87Glu Expert panel autosomal dominant nonsyndromic hearing loss 9
  • p.Arg98Ter Multiple submitters autosomal dominant nonsyndromic hearing loss 9
  • p.Cys351Ter Single submitter hearing loss, autosomal recessive 110
  • p.Gln483del Single submitter
  • p.Gly87Ala Single submitter Rare genetic deafness ⚠
  • p.Ile399_Ala404del Single submitter
  • p.Leu114Val Single submitter autosomal dominant nonsyndromic hearing loss 9 ⚠
  • p.Leu39Ter Single submitter hearing loss, autosomal recessive 110
  • p.Pro516Arg Single submitter autosomal dominant nonsyndromic hearing loss 9
  • p.Pro516Gln Single submitter autosomal dominant nonsyndromic hearing loss 9
  • p.Pro51Gln Single submitter autosomal dominant nonsyndromic hearing loss 9 ⚠
  • p.Val471Gly Single submitter autosomal dominant nonsyndromic hearing loss 9

Conflicting classifications of pathogenicity 22

Benign 42

Benign/Likely benign 6

  • c.630-9T>C Multiple submitters autosomal dominant nonsyndromic hearing loss 9
  • p.Gly205= Multiple submitters autosomal dominant nonsyndromic hearing loss 9
  • p.Ile402Val Multiple submitters autosomal dominant nonsyndromic hearing loss 9
  • p.Ser376= Multiple submitters
  • p.Thr417= Multiple submitters
  • p.Tyr424Asp Multiple submitters autosomal dominant nonsyndromic hearing loss 9 ⚠

Likely benign 66

Uncertain significance 165