Sugi Variant

Sugi Variant/KCNN3

KCNN3 — 170 ClinVar variants

All ClinVar germline KCNN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 4 Conflicting · 10 Benign · 12 Benign/Likely benign · 36 Likely benign · 101 Uncertain significance

Full KCNN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 2

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

Predictors lean, ClinVar uncertain 69

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

Predictors split 18

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

All KCNN3 variants

Pathogenic 3

  • p.Gly350Asp No assertion criteria Zimmermann-Laband syndrome 3
  • p.Lys269Glu No assertion criteria Zimmermann-Laband syndrome 3
  • p.Ser436Cys No assertion criteria Zimmermann-Laband syndrome 3

Pathogenic/Likely pathogenic 1

  • p.Ala536Thr Multiple submitters Zimmermann-Laband syndrome 3

Likely pathogenic 3

Conflicting classifications of pathogenicity 4

Benign 10

Benign/Likely benign 12

Likely benign 36

Uncertain significance 101