Sugi Variant

Sugi Variant/EDN3

EDN3 — 203 ClinVar variants

All ClinVar germline EDN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

5 Pathogenic · 6 Likely pathogenic · 5 Conflicting · 14 Benign · 3 Benign/Likely benign · 49 Likely benign · 121 Uncertain significance

Full EDN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 76

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 3

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

Predictors lean, ClinVar uncertain 64

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

Predictors split 9

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

All EDN3 variants

Pathogenic 5

  • p.Ala88fs No assertion criteria Waardenburg syndrome type 4B
  • p.Arg93Gly No assertion criteria Waardenburg syndrome type 4B
  • p.Cys159Phe No assertion criteria Waardenburg syndrome type 4B
  • p.Cys169Ter No assertion criteria Waardenburg syndrome type 4B
  • p.His112Arg No assertion criteria Waardenburg syndrome type 4B

Likely pathogenic 6

  • p.Cys173fs Single submitter EDN3-related disorder
  • p.Gln35fs Single submitter EDN3-related disorder
  • p.Glu2fs Single submitter EDN3-related disorder
  • p.Gly32fs Single submitter EDN3-related disorder
  • p.His112Asn Single submitter Waardenburg syndrome type 4B
  • p.Thr98Met Single submitter sensorineural hearing loss disorder

Conflicting classifications of pathogenicity 5

Benign 14

  • c.52+125C>T Multiple submitters
  • c.52+236G>A Multiple submitters
  • c.-77T>A Multiple submitters Hirschsprung disease, susceptibility to, 4
  • c.*146C>T Multiple submitters Hirschsprung disease, susceptibility to, 4
  • c.*171G>A Multiple submitters Hirschsprung disease, susceptibility to, 4
  • c.*915C>T Multiple submitters Hirschsprung disease, susceptibility to, 4
  • p.Gln175= Multiple submitters Hirschsprung disease, susceptibility to, 4
  • c.53-225G>T Single submitter
  • c.589-263G>A Single submitter
  • c.*1012C>T Single submitter Hirschsprung disease, susceptibility to, 4
  • c.*149del Single submitter
  • c.*600A>G Single submitter Hirschsprung disease, susceptibility to, 4
  • c.*864C>G Single submitter Hirschsprung disease, susceptibility to, 4
  • c.*957C>T Single submitter Hirschsprung disease, susceptibility to, 4

Benign/Likely benign 3

  • c.*165A>G Multiple submitters Hirschsprung disease, susceptibility to, 4
  • p.Ala142= Multiple submitters Hirschsprung disease, susceptibility to, 4
  • p.Thr189fs Multiple submitters Waardenburg syndrome type 4B

Likely benign 49

Uncertain significance 121