Sugi Variant

Sugi Variant/DDX6

DDX6 — 88 ClinVar variants

All ClinVar germline DDX6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 1 Conflicting · 6 Benign · 1 Benign/Likely benign · 9 Likely benign · 62 Uncertain significance

Full DDX6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 51

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 33

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

Predictors split 17

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

All DDX6 variants

Pathogenic 5

  • p.Thr391Ile Single submitter intellectual developmental disorder with impaired language and dysmorphic facies
  • p.Arg373Gln No assertion criteria intellectual developmental disorder with impaired language and dysmorphic facies
  • p.Cys390Arg No assertion criteria intellectual developmental disorder with impaired language and dysmorphic facies
  • p.His372Arg No assertion criteria intellectual developmental disorder with impaired language and dysmorphic facies
  • p.Thr391Pro No assertion criteria intellectual developmental disorder with impaired language and dysmorphic facies

Pathogenic/Likely pathogenic 1

  • p.Arg396Gln Multiple submitters intellectual developmental disorder with impaired language and dysmorphic facies

Likely pathogenic 3

  • p.Ala351Val Single submitter intellectual developmental disorder with impaired language and dysmorphic facies
  • p.Cys361fs Single submitter intellectual developmental disorder with impaired language and dysmorphic facies
  • p.Thr222Ile Single submitter intellectual developmental disorder with impaired language and dysmorphic facies

Conflicting classifications of pathogenicity 1

Benign 6

Benign/Likely benign 1

  • p.Thr64Asn Multiple submitters Inborn genetic diseases

Likely benign 9

Uncertain significance 62