Sugi Variant

Sugi Variant/KCNE1

KCNE1 — 351 ClinVar variants

All ClinVar germline KCNE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 137 flagged for review →

11 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 44 Conflicting · 37 Benign · 11 Benign/Likely benign · 70 Likely benign · 170 Uncertain significance

Full KCNE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 137

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 1

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

Predictors agree, ClinVar conflicts 25

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

Predictors lean, ClinVar uncertain 84

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

Predictors split 27

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

All KCNE1 variants

Pathogenic 11

  • p.Asn5Ter Multiple submitters long QT syndrome
  • p.Asn26fs Single submitter long QT syndrome
  • p.Gly52Arg Single submitter long QT syndrome
  • p.Lys41fs Single submitter Jervell and Lange-Nielsen syndrome 1
  • p.Met1Leu Single submitter long QT syndrome
  • p.Pro77fs Single submitter long QT syndrome
  • p.Ser68fs Single submitter long QT syndrome
  • p.Tyr46Ter Single submitter long QT syndrome
  • p.Arg32fs No assertion criteria long QT syndrome
  • p.Thr7Ile No assertion criteria Jervell and Lange-Nielsen syndrome 2
  • p.Trp17Ter No assertion criteria Jervell and Lange-Nielsen syndrome 2

Pathogenic/Likely pathogenic 2

  • p.Asp76fs Multiple submitters long QT syndrome
  • p.Val9fs Multiple submitters Cardiovascular phenotype

Likely pathogenic 6

Conflicting classifications of pathogenicity 44

Benign 37

Benign/Likely benign 11

  • c.-100T>C Multiple submitters Jervell and Lange-Nielsen syndrome 2
  • c.-253A>G Multiple submitters long QT syndrome 5
  • c.*1815A>G Multiple submitters Jervell and Lange-Nielsen syndrome 2
  • c.*2098T>C Multiple submitters long QT syndrome 5
  • c.*2123G>A Multiple submitters long QT syndrome 5
  • c.*268C>T Multiple submitters Jervell and Lange-Nielsen syndrome 2
  • p.Ala8= Multiple submitters long QT syndrome
  • p.Phe54= Multiple submitters Cardiovascular phenotype
  • p.Ser28= Multiple submitters Cardiovascular phenotype
  • p.Ser84= Multiple submitters long QT syndrome
  • p.Thr10= Multiple submitters Cardiovascular phenotype

Likely benign 70

Uncertain significance 170