Sugi Variant

Sugi Variant/KCNC2

KCNC2 — 164 ClinVar variants

All ClinVar germline KCNC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →

8 Pathogenic · 9 Likely pathogenic · 1 Conflicting · 2 Benign · 1 Benign/Likely benign · 15 Likely benign · 128 Uncertain significance

Full KCNC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 109

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 1

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

Predictors lean, ClinVar uncertain 91

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

Predictors split 17

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

All KCNC2 variants

Pathogenic 8

  • p.Arg351Lys Single submitter developmental and epileptic encephalopathy 103
  • p.Phe388Ser Single submitter developmental and epileptic encephalopathy 103
  • p.Thr437Asn Single submitter
  • p.Asp167Tyr No assertion criteria developmental and epileptic encephalopathy 103
  • p.Cys125Trp No assertion criteria developmental and epileptic encephalopathy 103
  • p.Glu135Gly No assertion criteria developmental and epileptic encephalopathy 103
  • p.Thr437Ala No assertion criteria developmental and epileptic encephalopathy 103
  • p.Val471Leu No assertion criteria developmental and epileptic encephalopathy 103

Likely pathogenic 9

  • p.Glu163Lys Single submitter developmental and epileptic encephalopathy 103
  • p.Glu404Lys Single submitter developmental and epileptic encephalopathy 103
  • p.Leu394Ser Single submitter developmental and epileptic encephalopathy 103
  • p.Phe293Leu Single submitter developmental and epileptic encephalopathy 103
  • p.Val349Ala Single submitter
  • p.Val469Met Single submitter
  • p.Val473Ala Single submitter
  • p.Val473Asp Single submitter Neurodevelopmental delay
  • p.Arg405Gly No assertion criteria developmental and epileptic encephalopathy

Conflicting classifications of pathogenicity 1

  • p.Pro470Ser Single submitter developmental and epileptic encephalopathy 103 ⚠

Benign 2

  • p.Cys125= No assertion criteria KCNC2-related disorder
  • p.Gly44= No assertion criteria KCNC2-related disorder

Benign/Likely benign 1

Likely benign 15

Uncertain significance 128