Sugi Variant

Sugi Variant/KCNC3

KCNC3 — 461 ClinVar variants

All ClinVar germline KCNC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 253 flagged for review →

5 Pathogenic · 5 Likely pathogenic · 17 Conflicting · 18 Benign · 31 Benign/Likely benign · 124 Likely benign · 261 Uncertain significance

Full KCNC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 253

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 8

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

Predictors lean, ClinVar uncertain 142

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

Predictors split 101

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

All KCNC3 variants

Pathogenic 5

  • p.Arg420His Multiple submitters hereditary ataxia
  • p.Arg423His Multiple submitters Inborn genetic diseases
  • p.Ser4fs Single submitter spinocerebellar ataxia type 13
  • p.Phe448Leu No assertion criteria spinocerebellar ataxia type 13
  • p.Thr428Ile No assertion criteria spinocerebellar ataxia type 13

Likely pathogenic 5

Conflicting classifications of pathogenicity 17

Benign 18

Benign/Likely benign 31

Likely benign 124

Uncertain significance 261