Sugi Variant

Sugi Variant/KCNN4

KCNN4 — 176 ClinVar variants

All ClinVar germline KCNN4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →

2 Pathogenic · 2 Likely pathogenic · 6 Conflicting · 23 Benign · 6 Benign/Likely benign · 31 Likely benign · 106 Uncertain significance

Full KCNN4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 101

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 5

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

Predictors lean, ClinVar uncertain 74

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

Predictors split 21

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

All KCNN4 variants

Pathogenic 2

  • p.Arg352His Multiple submitters dehydrated hereditary stomatocytosis 2 ⚠
  • p.Ser314Pro Single submitter dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema ⚠

Likely pathogenic 2

  • p.Val282Glu Single submitter dehydrated hereditary stomatocytosis 2
  • p.Val282Met Single submitter dehydrated hereditary stomatocytosis 2

Conflicting classifications of pathogenicity 6

Benign 23

Benign/Likely benign 6

Likely benign 31

Uncertain significance 106