Sugi Variant

Sugi Variant/ESRP1

ESRP1 — 96 ClinVar variants

All ClinVar germline ESRP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 10 Benign · 16 Likely benign · 67 Uncertain significance

Full ESRP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 68

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 lean, ClinVar uncertain 37

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

Predictors split 31

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

All ESRP1 variants

Pathogenic 2

  • p.Leu259Val Single submitter hearing loss, autosomal recessive 109 ⚠
  • p.Asp222fs No assertion criteria hearing loss, autosomal recessive 109

Likely pathogenic 1

  • p.Asn512fs Single submitter hearing loss, autosomal recessive 109

Benign 10

  • c.490+16T>C Multiple submitters hearing loss, autosomal recessive 109
  • c.589+10G>T Multiple submitters
  • c.756-23T>C Multiple submitters hearing loss, autosomal recessive 109
  • p.Asn600= Multiple submitters hearing loss, autosomal recessive 109
  • p.Leu129= Multiple submitters
  • p.Ser404= Multiple submitters
  • p.Val328= Multiple submitters hearing loss, autosomal recessive 109
  • c.133-10A>G Single submitter
  • p.Asn314Ser No assertion criteria ESRP1-related disorder
  • p.Asp109= No assertion criteria ESRP1-related disorder

Likely benign 16

Uncertain significance 67