Sugi Variant

Sugi Variant/TPRN

TPRN — 383 ClinVar variants

All ClinVar germline TPRN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 199 flagged for review →

16 Pathogenic · 5 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 27 Conflicting · 9 Benign · 8 Benign/Likely benign · 101 Likely benign · 209 Uncertain significance

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

⚑ Evidence disagreements 199

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 23

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

Predictors lean, ClinVar uncertain 141

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

Predictors split 35

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

All TPRN variants

Pathogenic 16

  • p.Gln414Ter Multiple submitters
  • p.Gly76fs Multiple submitters Rare genetic deafness
  • p.Leu315fs Multiple submitters autosomal recessive nonsyndromic hearing loss 79
  • p.Ala227fs Single submitter
  • p.Arg183fs Single submitter
  • p.Arg328Ter Single submitter
  • p.Arg348fs Single submitter
  • p.Glu101Ter Single submitter autosomal recessive nonsyndromic hearing loss 79
  • p.Glu138fs Single submitter autosomal recessive nonsyndromic hearing loss 79
  • p.Gly217fs Single submitter autosomal recessive nonsyndromic hearing loss 79
  • p.Pro158fs Single submitter
  • p.Pro182fs Single submitter
  • p.Ser264fs Single submitter
  • p.Tyr558fs Single submitter autosomal recessive nonsyndromic hearing loss 79
  • p.Leu80fs No assertion criteria autosomal recessive nonsyndromic hearing loss 79
  • p.Thr511fs No assertion criteria autosomal recessive nonsyndromic hearing loss 79

Pathogenic/Likely pathogenic 5

  • p.Arg149fs Multiple submitters autosomal recessive nonsyndromic hearing loss 79
  • p.Leu79fs Multiple submitters ear malformation
  • p.Pro344fs Multiple submitters autosomal recessive nonsyndromic hearing loss 79
  • p.Gln468fs No assertion criteria
  • p.Trp413Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 79

Likely pathogenic 8

  • p.Arg147fs Single submitter Rare genetic deafness
  • p.Arg168fs Single submitter autosomal recessive nonsyndromic hearing loss 79
  • p.Gly656fs Single submitter
  • p.Pro169fs Single submitter Rare genetic deafness
  • p.Pro476fs Single submitter TPRN-related disorder
  • p.Pro509fs Single submitter autosomal recessive nonsyndromic hearing loss 79
  • p.Trp248Ter Single submitter TPRN-related disorder
  • p.Glu387Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 79

Conflicting classifications of pathogenicity 27

Benign 9

Benign/Likely benign 8

Likely benign 101

Uncertain significance 209