Sugi Variant

Sugi Variant/EPS8

EPS8 — 401 ClinVar variants

All ClinVar germline EPS8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 193 flagged for review →

9 Pathogenic · 4 Likely pathogenic · 15 Conflicting · 42 Benign · 13 Benign/Likely benign · 127 Likely benign · 191 Uncertain significance

Full EPS8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 193

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 92

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

Predictors split 94

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

All EPS8 variants

Pathogenic 9

  • c.517-1G>T Single submitter autosomal recessive nonsyndromic hearing loss 102
  • c.811-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 102
  • p.Gln137fs Single submitter
  • p.Gln350Ter Single submitter autosomal recessive nonsyndromic hearing loss 102
  • p.Glu155fs Single submitter
  • p.Leu475Ter Single submitter autosomal recessive nonsyndromic hearing loss 102
  • p.Pro601fs Single submitter
  • p.Ser60Ter Single submitter
  • p.Gln30Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 102

Likely pathogenic 4

  • c.1435-2A>T Single submitter autosomal recessive nonsyndromic hearing loss 102
  • c.600-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 102
  • p.Arg232Ter Single submitter autosomal recessive nonsyndromic hearing loss 102
  • p.Gln226Ter Single submitter autosomal recessive nonsyndromic hearing loss 102

Conflicting classifications of pathogenicity 15

Benign 42

Benign/Likely benign 13

Likely benign 127

Uncertain significance 191