TECTA — 123 ClinVar variants

All ClinVar germline TECTA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →

8 Pathogenic · 6 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 29 Conflicting · 7 Benign · 4 Benign/Likely benign · 3 Likely benign · 56 Uncertain significance

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

⚑ Evidence disagreements 52

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 9

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

Predictors lean, ClinVar uncertain 27

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

Predictors split 15

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

All TECTA variants

Pathogenic 8

Pathogenic/Likely pathogenic 6

  • c.4690-1G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 12
  • p.Arg2021Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 12
  • p.Asp2006Gly Multiple submitters TECTA-related disorder
  • p.Gly109= Multiple submitters TECTA-related disorder
  • p.Ser373fs Multiple submitters TECTA-related disorder
  • p.Gly416fs No assertion criteria autosomal recessive nonsyndromic hearing loss 21

Likely pathogenic 10

  • c.2367+2T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 21
  • p.Ala872Ser Single submitter autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Cys1837Arg Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Gly434Val Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Gly579fs Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Leu1777= Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Lys820Ter Single submitter autosomal recessive nonsyndromic hearing loss 21
  • p.Ser1847Pro Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Ser5fs Single submitter nonsyndromic genetic hearing loss
  • p.Thr190Pro Single submitter autosomal dominant nonsyndromic hearing loss 12

Conflicting classifications of pathogenicity 29

  • c.2367+9C>T Single submitter autosomal recessive nonsyndromic hearing loss 21
  • c.5586+12A>G Single submitter autosomal dominant nonsyndromic hearing loss 12
  • c.625-4G>T Single submitter
  • c.65-14A>G Single submitter autosomal recessive nonsyndromic hearing loss 21
  • c.790+12C>T Single submitter autosomal recessive nonsyndromic hearing loss 21
  • p.Ala1046= Single submitter autosomal recessive nonsyndromic hearing loss 21
  • p.Ala1341Thr Single submitter autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Ala1735= Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Arg1186Trp Single submitter autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Arg909Cys Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Asn238= Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Cys2045= Single submitter autosomal recessive nonsyndromic hearing loss 21
  • p.Gly1042= Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Gly1655= Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Ile1574Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1959= Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Leu943Met Single submitter autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Phe1511= Single submitter autosomal recessive nonsyndromic hearing loss 21
  • p.Pro30= Single submitter autosomal recessive nonsyndromic hearing loss 21
  • p.Ser140= Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Ser2143Leu Single submitter autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Ser362Ile Single submitter Inborn genetic diseases
  • p.Thr190Met Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Thr815Met Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Tyr1714= Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Val1171Met Single submitter autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Val1494Ala Single submitter Meniere disease ⚠
  • p.Val1605Ile Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Val2026Ile Single submitter Inborn genetic diseases ⚠

Benign 7

  • p.Arg371Gly Expert panel nonsyndromic genetic hearing loss
  • c.4105+13C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 21
  • c.5272+26A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 21
  • c.5586+40C>G Multiple submitters autosomal dominant nonsyndromic hearing loss 12
  • p.Ala495= Multiple submitters autosomal recessive nonsyndromic hearing loss 21
  • p.Ser1724Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 21
  • p.Ser1878= Multiple submitters autosomal recessive nonsyndromic hearing loss 21

Benign/Likely benign 4

  • c.624+11C>G Multiple submitters autosomal recessive nonsyndromic hearing loss 21
  • p.Ser1584Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 21
  • p.Val1911= Multiple submitters autosomal recessive nonsyndromic hearing loss 21
  • p.Val932Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 21

Likely benign 3

  • c.487-7C>G Expert panel nonsyndromic genetic hearing loss
  • p.Gly1335Glu Expert panel nonsyndromic genetic hearing loss
  • p.Trp10Ser Single submitter autosomal dominant nonsyndromic hearing loss 12

Uncertain significance 56

  • p.Ala567Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Arg284Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg474Cys Multiple submitters autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Cys1072= Multiple submitters autosomal dominant nonsyndromic hearing loss 12
  • p.Cys1285Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Cys1402Ser Multiple submitters Meniere disease ⚠
  • p.Cys294Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Gln1862Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Ile1997Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu27Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Met1697Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met206Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Pro119Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Ser1481Gly Multiple submitters autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Ser599Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1446Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Tyr1705Cys Multiple submitters autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Val1207Met Multiple submitters autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Val1634Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 12 ⚠
  • c.2941+3366T>G Single submitter autosomal recessive nonsyndromic hearing loss 21
  • c.4977-12C>T Single submitter autosomal recessive nonsyndromic hearing loss 21
  • c.5587-15C>G Single submitter autosomal recessive nonsyndromic hearing loss 21
  • c.790+4A>G Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Arg1462Cys Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Arg2101Trp Single submitter autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Arg284His Single submitter autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Asp1430Gly Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Asp42Glu Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Asp505His Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Asp725= Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Cys2052Arg Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Cys671Tyr Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Gly1113Ala Single submitter autosomal recessive nonsyndromic hearing loss 21
  • p.Gly201Ser Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Gly2078Glu Single submitter ⚠
  • p.His2023= Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Ile254= Single submitter autosomal recessive nonsyndromic hearing loss 21
  • p.Leu1953Ser Single submitter ⚠
  • p.Leu564Phe Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Lys1726Asn Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Lys1754Glu Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Met1811del Single submitter nonsyndromic genetic hearing loss
  • p.Phe178Cys Single submitter autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Phe439Ser Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Phe87Cys Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Pro1914Arg Single submitter autosomal recessive nonsyndromic hearing loss 21 ⚠
  • p.Ser1644Arg Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Ser2120Thr Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Ser47Cys Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Ser593= Single submitter autosomal recessive nonsyndromic hearing loss 21
  • p.Thr1129Arg Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Thr126Ile Single submitter autosomal dominant nonsyndromic hearing loss 12 ⚠
  • p.Thr1354Ser Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Thr1971= Single submitter autosomal recessive nonsyndromic hearing loss 21
  • p.Tyr2050= Single submitter autosomal dominant nonsyndromic hearing loss 12
  • p.Val363= Single submitter autosomal dominant nonsyndromic hearing loss 12