Sugi Variant

Sugi Variant/ESPN

ESPN — 572 ClinVar variants

All ClinVar germline ESPN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 300 flagged for review →

14 Pathogenic · 1 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 17 Conflicting · 40 Benign · 17 Benign/Likely benign · 173 Likely benign · 297 Uncertain significance

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

⚑ Evidence disagreements 300

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 7

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

Predictors lean, ClinVar uncertain 155

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 155

Predictors split 137

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

All ESPN variants

Pathogenic 14

  • c.1916-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 36
  • c.1916-1G>C Single submitter autosomal recessive nonsyndromic hearing loss 36
  • c.489-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 36
  • p.Arg550fs Single submitter autosomal recessive nonsyndromic hearing loss 36
  • p.Arg790_Arg795del Single submitter Usher syndrome type 1
  • p.Lys666fs Single submitter autosomal recessive nonsyndromic hearing loss 36
  • p.Ser694fs Single submitter autosomal recessive nonsyndromic hearing loss 36
  • p.Trp88Ter Single submitter
  • p.Tyr832Ter Single submitter autosomal recessive nonsyndromic hearing loss 36
  • p.Ala586fs No assertion criteria Deafness, autosomal recessive 36, without vestibular involvement
  • p.Arg774Gln No assertion criteria autosomal dominant nonsyndromic hearing loss 91 ⚠
  • p.Lys663fs No assertion criteria autosomal recessive nonsyndromic hearing loss 36
  • p.Ser719Arg No assertion criteria autosomal dominant nonsyndromic hearing loss 91 ⚠
  • p.Ser824fs No assertion criteria autosomal recessive nonsyndromic hearing loss 36

Pathogenic/Likely pathogenic 1

Likely pathogenic 13

  • c.1464+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 36
  • c.487_488+2del Single submitter
  • p.Arg842Ter Single submitter autosomal recessive nonsyndromic hearing loss 36
  • p.Gln98Ter Single submitter
  • p.Glu658Lys Single submitter autosomal recessive nonsyndromic hearing loss 36 ⚠
  • p.Glu800fs Single submitter
  • p.Glu816Ter Single submitter autosomal recessive nonsyndromic hearing loss 36
  • p.His82fs Single submitter Rare genetic deafness
  • p.Lys660fs Single submitter Usher syndrome, type 1M
  • p.Lys848del Single submitter autosomal recessive nonsyndromic hearing loss 36
  • p.Trp258Ter Single submitter Usher syndrome, type 1M
  • p.Val226fs Single submitter Rare genetic deafness
  • c.1464+2T>G No assertion criteria inherited retinal dystrophy

Conflicting classifications of pathogenicity 17

Benign 40

Benign/Likely benign 17

Likely benign 173

Uncertain significance 297