Sugi Variant

Sugi Variant/CLDN14

CLDN14 — 191 ClinVar variants

All ClinVar germline CLDN14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

12 Pathogenic · 4 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 20 Conflicting · 8 Benign · 5 Benign/Likely benign · 27 Likely benign · 111 Uncertain significance

Full CLDN14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 49

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

Predictors split 34

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

All CLDN14 variants

Pathogenic 12

  • p.Arg68fs Single submitter
  • p.Arg68Ter Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Cys185_Gln186delinsTer Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Cys95Ter Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Ile119fs Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Pro197fs Single submitter
  • p.Ser14fs Single submitter sensorineural hearing loss disorder
  • p.Thr204fs Single submitter
  • p.Trp56fs Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Trp56Ter Single submitter CLDN14-related disorder
  • p.Val85Asp Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Met133fs No assertion criteria autosomal recessive nonsyndromic hearing loss 29

Pathogenic/Likely pathogenic 4

  • p.Arg81His Multiple submitters CLDN14-related disorder
  • p.Cys97Ter Multiple submitters hearing loss, autosomal recessive
  • p.Trp30Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 29
  • p.Gly232Arg No assertion criteria autosomal recessive nonsyndromic hearing loss 29 ⚠

Likely pathogenic 4

Conflicting classifications of pathogenicity 20

  • c.-46G>A Single submitter autosomal recessive nonsyndromic hearing loss 29
  • c.-5G>A Single submitter autosomal recessive nonsyndromic hearing loss 29
  • c.-75G>T Single submitter autosomal recessive nonsyndromic hearing loss 29
  • c.*10G>C Single submitter autosomal recessive nonsyndromic hearing loss 29
  • c.*48G>A Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Ala163Val Single submitter Monogenic hearing loss ⚠
  • p.Ala43= Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Cys107= Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Gly101Arg Single submitter autosomal recessive nonsyndromic hearing loss 29 ⚠
  • p.His230= Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Pro150= Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Pro28Leu Single submitter ⚠
  • p.Ser174= Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Ser227= Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Ser91= Single submitter
  • p.Thr207= Single submitter autosomal recessive nonsyndromic hearing loss 29
  • p.Tyr62Cys Single submitter vein of Galen aneurysm ⚠
  • p.Val136Ile Single submitter ⚠
  • p.Val225Ala Single submitter Inborn genetic diseases ⚠
  • p.Val6= Single submitter autosomal recessive nonsyndromic hearing loss 29

Benign 8

  • c.-264G>C Multiple submitters autosomal recessive nonsyndromic hearing loss 29
  • c.-290A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 29
  • c.-81-184A>G Multiple submitters
  • p.Arg81= Multiple submitters autosomal recessive nonsyndromic hearing loss 29
  • p.Ile100= Multiple submitters autosomal recessive nonsyndromic hearing loss 29
  • p.Thr229= Multiple submitters autosomal recessive nonsyndromic hearing loss 29
  • p.Tyr211= Multiple submitters autosomal recessive nonsyndromic hearing loss 29
  • p.Ala196= Single submitter

Benign/Likely benign 5

  • c.*51G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 29
  • p.Ala98= Multiple submitters
  • p.Pro197= Multiple submitters
  • p.Thr21= Multiple submitters autosomal recessive nonsyndromic hearing loss 29
  • p.Thr4Met Multiple submitters autosomal recessive nonsyndromic hearing loss 29

Likely benign 27

Uncertain significance 111