Sugi Variant

Sugi Variant/CDK19

CDK19 — 93 ClinVar variants

All ClinVar germline CDK19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 2 Conflicting · 14 Likely benign · 69 Uncertain significance

Full CDK19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 60

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 33

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

Predictors split 25

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

All CDK19 variants

Pathogenic 3

  • p.Arg200Gln Single submitter
  • p.Gly28Arg Single submitter developmental and epileptic encephalopathy, 87
  • p.Tyr32His Single submitter developmental and epileptic encephalopathy, 87

Pathogenic/Likely pathogenic 1

  • p.Thr31Asn Multiple submitters developmental and epileptic encephalopathy, 87

Likely pathogenic 4

Conflicting classifications of pathogenicity 2

  • p.Thr196Ala Single submitter Inborn genetic diseases ⚠
  • p.Tyr32Cys Single submitter developmental and epileptic encephalopathy, 87 ⚠

Likely benign 14

Uncertain significance 69