Sugi Variant

Sugi Variant/KCNE5

KCNE5 — 116 ClinVar variants

All ClinVar germline KCNE5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →

5 Conflicting · 1 Benign · 5 Benign/Likely benign · 27 Likely benign · 78 Uncertain significance

Full KCNE5 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 agree, ClinVar conflicts 3

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 8

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

All KCNE5 variants

Conflicting classifications of pathogenicity 5

Benign 1

Benign/Likely benign 5

  • p.Ala111= Multiple submitters Brugada syndrome
  • p.Arg10= Multiple submitters Brugada syndrome
  • p.Pro33Ser Multiple submitters Brugada syndrome
  • p.Ser14= Multiple submitters Brugada syndrome
  • p.Tyr70= Multiple submitters Brugada syndrome

Likely benign 27

Uncertain significance 78