Sugi Variant

Sugi Variant/TMIE

TMIE — 151 ClinVar variants

All ClinVar germline TMIE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →

9 Pathogenic · 3 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 16 Conflicting · 19 Benign · 4 Benign/Likely benign · 24 Likely benign · 70 Uncertain significance

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

⚑ Evidence disagreements 51

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 7

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

Predictors lean, ClinVar uncertain 31

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

Predictors split 13

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

All TMIE variants

Pathogenic 9

  • c.212-2A>C Single submitter autosomal recessive nonsyndromic hearing loss 6
  • c.362-2A>G Single submitter
  • c.-507_-66-2329del Single submitter autosomal recessive nonsyndromic hearing loss 6
  • p.Arg92Trp Single submitter autosomal recessive nonsyndromic hearing loss 6
  • p.Arg96Ter Single submitter autosomal recessive nonsyndromic hearing loss 6
  • c.94-2_98delinsC No assertion criteria autosomal recessive nonsyndromic hearing loss 6
  • p.Pro41fs No assertion criteria autosomal recessive nonsyndromic hearing loss 6
  • p.Trp57Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 6
  • p.Val49fs No assertion criteria autosomal recessive nonsyndromic hearing loss 6

Pathogenic/Likely pathogenic 3

  • p.Glu31Gly Multiple submitters autosomal recessive nonsyndromic hearing loss 6 ⚠
  • p.Pro43fs Multiple submitters autosomal recessive nonsyndromic hearing loss 6
  • p.Val20fs Multiple submitters

Likely pathogenic 6

  • p.Arg84Trp Multiple submitters sensorineural hearing loss disorder
  • c.211+3G>C Single submitter Rare genetic deafness
  • c.361+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 6
  • p.Arg84Leu Single submitter Rare genetic deafness ⚠
  • p.Glu117Ter Single submitter ear malformation
  • p.Val30fs Single submitter autosomal recessive nonsyndromic hearing loss 6

Conflicting classifications of pathogenicity 16

  • c.211+1G>C Single submitter TMIE-related disorder
  • c.211+5G>A Single submitter
  • c.*260C>A Single submitter autosomal recessive nonsyndromic hearing loss 6
  • p.Arg55Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg81Cys Single submitter sensorineural hearing loss disorder ⚠
  • p.Asp122Glu Single submitter autosomal recessive nonsyndromic hearing loss 6 ⚠
  • p.Gly14Ser Single submitter Inborn genetic diseases ⚠
  • p.His58= Single submitter autosomal recessive nonsyndromic hearing loss 6
  • p.Lys129_Lys131del Single submitter
  • p.Ser64= Single submitter autosomal recessive nonsyndromic hearing loss 6
  • p.Ser64Leu Single submitter autosomal recessive nonsyndromic hearing loss 6
  • p.Ser69Phe Single submitter autosomal recessive nonsyndromic hearing loss 6 ⚠
  • p.Thr34= Single submitter autosomal recessive nonsyndromic hearing loss 6
  • p.Thr73= Single submitter autosomal recessive nonsyndromic hearing loss 6
  • p.Val12Leu Single submitter Inborn genetic diseases ⚠
  • p.Val50Leu Single submitter autosomal recessive nonsyndromic hearing loss 6 ⚠

Benign 19

Benign/Likely benign 4

  • c.-37C>A Multiple submitters autosomal recessive nonsyndromic hearing loss 6
  • c.*51C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 6
  • p.Lys130_Lys131del Multiple submitters
  • p.Lys131del Multiple submitters autosomal recessive nonsyndromic hearing loss 6

Likely benign 24

Uncertain significance 70