Sugi Variant

Sugi Variant/USH1C

USH1C — 1506 ClinVar variants

All ClinVar germline USH1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 324 flagged for review →

62 Pathogenic · 33 Pathogenic/Likely pathogenic · 101 Likely pathogenic · 76 Conflicting · 96 Benign · 22 Benign/Likely benign · 638 Likely benign · 478 Uncertain significance

Full USH1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 324

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 11

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

Predictors lean, ClinVar uncertain 226

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 226

Predictors split 87

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

All USH1C variants

Pathogenic 62

Pathogenic/Likely pathogenic 33

  • c.104+1G>A Multiple submitters Usher syndrome type 1C
  • c.105-2A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • c.2227-1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • c.36+1G>A Multiple submitters Usher syndrome type 1C
  • c.388-1G>A Multiple submitters USH1C-related disorder
  • c.521+1G>A Multiple submitters Usher syndrome type 1C
  • c.579+1G>A Multiple submitters USH1C-related disorder
  • c.579+1G>C Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • c.579+2T>G Multiple submitters USH1C-related disorder
  • c.580-2A>T Multiple submitters hearing loss disorder
  • c.674+1G>A Multiple submitters USH1C-related disorder
  • c.877-1G>A Multiple submitters USH1C-related disorder
  • p.Arg103His Multiple submitters Usher syndrome type 1
  • p.Arg220Ter Multiple submitters Usher syndrome type 1C
  • p.Arg80fs Multiple submitters Usher syndrome type 1C
  • p.Asp24fs Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • p.Gln315fs Multiple submitters Usher syndrome type 1C
  • p.Gln347Ter Multiple submitters Usher syndrome type 1C
  • p.Gln383fs Multiple submitters USH1C-related disorder
  • p.Glu306fs Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • p.Glu316fs Multiple submitters Usher syndrome type 1C
  • p.Glu344Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • p.Glu366fs Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • p.Glu801Ter Multiple submitters USH1C-related disorder
  • p.Glu8fs Multiple submitters Usher syndrome type 1C
  • p.Gly379_Ser380insTer Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • p.Ser125fs Multiple submitters Usher syndrome type 1C
  • p.Ser161fs Multiple submitters USH1C-related disorder
  • p.Ser281fs Multiple submitters Usher syndrome type 2
  • p.Trp182Ter Multiple submitters Usher syndrome type 1C
  • p.Trp378Ter Multiple submitters Usher syndrome type 1C
  • p.Tyr25Ter Multiple submitters Usher syndrome type 1C
  • p.Val164fs Multiple submitters USH1C-related disorder

Likely pathogenic 101

  • c.1020-2A>C Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • c.104+5G>C Multiple submitters Usher syndrome type 1C
  • c.1211-3_1232del Multiple submitters USH1C-related disorder
  • c.2185-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • c.2226+2T>C Multiple submitters
  • c.2280+2T>C Multiple submitters USH1C-related disorder
  • c.2381-7_2381del Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • c.248+1G>A Multiple submitters Usher syndrome
  • c.249-1G>A Multiple submitters Usher syndrome type 1C
  • c.2490+1del Multiple submitters USH1C-related disorder
  • c.2490+1G>A Multiple submitters Usher syndrome type 1C
  • c.2490+1G>T Multiple submitters Usher syndrome type 1C
  • c.37-1G>C Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • c.387+1G>A Multiple submitters Usher syndrome type 1C
  • c.387+1G>C Multiple submitters Usher syndrome type 1C
  • c.760-1G>T Multiple submitters USH1C-related disorder
  • c.877-2A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • p.Gly104Arg Multiple submitters USH1C-related disorder
  • p.Gly104Asp Multiple submitters Usher syndrome type 1
  • p.Gly807fs Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • p.Phe237fs Multiple submitters autosomal recessive nonsyndromic hearing loss 18A
  • c.1019+1G>A Single submitter Usher syndrome type 1C
  • c.104+2T>C Single submitter Usher syndrome
  • c.105-1G>T Single submitter
  • c.1085+1G>C Single submitter
  • c.1086-1G>T Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • c.1210+2T>C Single submitter
  • c.1210+2T>G Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • c.1211-5_1232delinsCGG Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • c.1284+5347_1284+5350del Single submitter Usher syndrome type 1C
  • c.2280+1G>T Single submitter
  • c.2281-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • c.2491-1G>C Single submitter
  • c.2491-2A>G Single submitter
  • c.36+2T>A Single submitter
  • c.37-3_46del Single submitter
  • c.496+2T>G Single submitter USH1C-related disorder
  • c.497-2A>C Single submitter
  • c.497-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • c.579+2T>C Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • c.675-1G>T Single submitter
  • c.759+1G>A Single submitter
  • c.760-1G>C Single submitter
  • c.820-2A>T Single submitter
  • c.876+2_876+19del Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • c.876+2_876+3del Single submitter
  • c.876+2T>C Single submitter
  • c.877-2A>C Single submitter
  • p.Ala305fs Single submitter Usher syndrome type 1C
  • p.Ala504fs Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Arg787fs Single submitter Usher syndrome type 1C
  • p.Asp800fs Single submitter Usher syndrome type 1C
  • p.Cys110fs Single submitter Usher syndrome type 1C
  • p.Gln187fs Single submitter USH1C-related disorder
  • p.Gln257Ter Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Gln309fs Single submitter Usher syndrome type 1C
  • p.Gln334Ter Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Gln340Ter Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Gln347fs Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Gln406Ter Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Glu306Ter Single submitter Usher syndrome type 1C
  • p.Glu368fs Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Glu382Ter Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Glu413Ter Single submitter USH1C-related disorder
  • p.Glu791Ter Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Glu844_Tyr845insTer Single submitter USH1C-related disorder
  • p.Glu844fs Single submitter Usher syndrome type 1C
  • p.Glu96Ter Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Gly255fs Single submitter USH1C-related disorder
  • p.Gly293fs Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Ile167fs Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Ile776fs Single submitter Usher syndrome type 1C
  • p.Leu128_Gln129insLeu Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Leu312fs Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Leu386Ter Single submitter Usher syndrome type 1C
  • p.Lys119fs Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Lys12Ter Single submitter Usher syndrome type 1C
  • p.Lys485fs Single submitter
  • p.Lys759Ter Single submitter Usher syndrome type 1C
  • p.Lys808fs Single submitter Usher syndrome type 1C
  • p.Met298fs Single submitter Usher syndrome type 1C
  • p.Met37fs Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Pro609fs Single submitter Usher syndrome type 1C
  • p.Ser101fs Single submitter Usher syndrome type 1C
  • p.Thr181fs Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Trp182Arg Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Trp374Ter Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Tyr27Ter Single submitter Usher syndrome type 1C
  • p.Tyr740fs Single submitter autosomal recessive nonsyndromic hearing loss 18A
  • p.Tyr740Ter Single submitter
  • p.Val13Ala Single submitter autosomal recessive nonsyndromic hearing loss 18A ⚠
  • p.Val29fs Single submitter Usher syndrome type 1C
  • c.2185-2A>G No assertion criteria autosomal recessive nonsyndromic hearing loss 18A
  • c.2281-1G>A No assertion criteria autosomal recessive nonsyndromic hearing loss 18A
  • c.2381-2A>G No assertion criteria autosomal recessive nonsyndromic hearing loss 18A
  • c.2490+2T>C No assertion criteria autosomal recessive nonsyndromic hearing loss 18A
  • c.674+1del No assertion criteria autosomal recessive nonsyndromic hearing loss 18A
  • c.819+1G>A No assertion criteria autosomal recessive nonsyndromic hearing loss 18A
  • p.Glu149Lys No assertion criteria autosomal recessive nonsyndromic hearing loss 18A ⚠
  • p.Met1Val No assertion criteria autosomal recessive nonsyndromic hearing loss 18A
  • p.Val784_Tyr785insTer No assertion criteria autosomal recessive nonsyndromic hearing loss 18A

Conflicting classifications of pathogenicity 76

Benign 96

Benign/Likely benign 22

Likely benign 638

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

Uncertain significance 478

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