Sugi Variant

Sugi Variant/ECE1

ECE1 — 151 ClinVar variants

All ClinVar germline ECE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 14 Benign · 1 Benign/Likely benign · 32 Likely benign · 99 Uncertain significance

Full ECE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 102

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 57

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

Predictors split 42

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

All ECE1 variants

Pathogenic 1

  • p.Arg754Cys No assertion criteria Hirschsprung disease, cardiac defects, and autonomic dysfunction ⚠

Likely pathogenic 3

  • p.Gly656Arg Single submitter Hirschsprung disease, cardiac defects, and autonomic dysfunction ⚠
  • p.Arg627Trp No assertion criteria Hirschsprung disease ⚠
  • p.Phe356Cys No assertion criteria Hirschsprung disease

Conflicting classifications of pathogenicity 1

Benign 14

Benign/Likely benign 1

Likely benign 32

Uncertain significance 99