Sugi Variant

Sugi Variant/KCNE2

KCNE2 — 114 ClinVar variants

All ClinVar germline KCNE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

1 Pathogenic · 15 Conflicting · 9 Benign · 4 Benign/Likely benign · 23 Likely benign · 62 Uncertain significance

Full KCNE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 58

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 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, 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 16

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

All KCNE2 variants

Pathogenic 1

  • p.Phe60Leu No assertion criteria Long QT syndrome 3/6, digenic ⚠

Conflicting classifications of pathogenicity 15

Benign 9

Benign/Likely benign 4

  • c.-79G>A Multiple submitters atrial fibrillation, familial, 4
  • p.Gln9Glu Multiple submitters Cardiovascular phenotype
  • p.Tyr84= Multiple submitters long QT syndrome 6
  • p.Tyr87= Multiple submitters Cardiovascular phenotype

Likely benign 23

  • p.Ala116= Multiple submitters Cardiovascular phenotype
  • p.Arg76= Multiple submitters long QT syndrome 6
  • p.Asn113= Multiple submitters long QT syndrome 6
  • p.Asp13= Multiple submitters Cardiovascular phenotype
  • p.Asp82= Multiple submitters long QT syndrome 6
  • p.Ile20= Multiple submitters long QT syndrome 6
  • p.Ile63= Multiple submitters Cardiovascular phenotype
  • p.Leu103= Multiple submitters Cardiovascular phenotype
  • p.Ser106= Multiple submitters long QT syndrome 6
  • p.Ser74= Multiple submitters Cardiovascular phenotype
  • p.Tyr47= Multiple submitters Cardiovascular phenotype
  • p.Val65= Multiple submitters Cardiovascular phenotype
  • p.Val69= Multiple submitters long QT syndrome 6
  • c.-12-27T>C Single submitter
  • c.-13+313T>C Single submitter
  • p.Glu35= Single submitter Cardiovascular phenotype
  • p.Ile110= Single submitter long QT syndrome 6
  • p.Ile64= Single submitter Cardiovascular phenotype
  • p.Pro123= Single submitter long QT syndrome 6
  • p.Ser122= Single submitter Cardiovascular phenotype
  • p.Thr21= Single submitter Cardiovascular phenotype
  • p.Val14= Single submitter long QT syndrome 6
  • p.Val89= Single submitter Cardiovascular phenotype

Uncertain significance 62