Sugi Variant

Sugi Variant/CDK8

CDK8 — 100 ClinVar variants

All ClinVar germline CDK8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

10 Pathogenic · 10 Likely pathogenic · 1 Conflicting · 2 Benign · 10 Likely benign · 67 Uncertain significance

Full CDK8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 65

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 30

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

Predictors split 34

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

All CDK8 variants

Pathogenic 10

  • p.Ser62Leu Multiple submitters complex neurodevelopmental disorder with or without congenital anomalies
  • p.Arg178Gln Single submitter intellectual developmental disorder with hypotonia and behavioral abnormalities
  • p.Asn156Ser Single submitter
  • p.Gly30Cys Single submitter
  • p.Ser62Ter Single submitter Abnormal heart morphology
  • p.Val27Leu Single submitter ⚠
  • p.Arg29Gly No assertion criteria intellectual developmental disorder with hypotonia and behavioral abnormalities
  • p.Gly30Ser No assertion criteria intellectual developmental disorder with hypotonia and behavioral abnormalities
  • p.Ile223Met No assertion criteria intellectual developmental disorder with hypotonia and behavioral abnormalities
  • p.Val193Gly No assertion criteria intellectual developmental disorder with hypotonia and behavioral abnormalities

Likely pathogenic 10

  • p.Ala188Gly Single submitter NAD(P)HX dehydratase deficiency
  • p.Asp173His Single submitter intellectual developmental disorder with hypotonia and behavioral abnormalities
  • p.Gly30Val Single submitter intellectual developmental disorder with hypotonia and behavioral abnormalities
  • p.His34Pro Single submitter intellectual developmental disorder with hypotonia and behavioral abnormalities
  • p.Met160Thr Single submitter intellectual developmental disorder with hypotonia and behavioral abnormalities
  • p.Met174Thr Single submitter
  • p.Ser62Trp Single submitter intellectual developmental disorder with hypotonia and behavioral abnormalities
  • p.Thr196Ile Single submitter intellectual developmental disorder with hypotonia and behavioral abnormalities
  • p.Thr196Ser Single submitter intellectual developmental disorder with hypotonia and behavioral abnormalities
  • p.Val195Ala Single submitter

Conflicting classifications of pathogenicity 1

  • p.Arg200Gln Single submitter intellectual developmental disorder with hypotonia and behavioral abnormalities ⚠

Benign 2

  • c.934-28G>A Multiple submitters intellectual developmental disorder with hypotonia and behavioral abnormalities
  • c.128+10T>C No assertion criteria CDK8-related disorder

Likely benign 10

Uncertain significance 67