Sugi Variant

Sugi Variant/DDX59

DDX59 — 167 ClinVar variants

All ClinVar germline DDX59 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 5 Conflicting · 17 Benign · 5 Benign/Likely benign · 40 Likely benign · 91 Uncertain significance

Full DDX59 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 84

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 5

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

Predictors lean, ClinVar uncertain 68

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

Predictors split 11

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

All DDX59 variants

Pathogenic 4

Pathogenic/Likely pathogenic 1

  • p.Val367Gly Multiple submitters orofaciodigital syndrome V

Likely pathogenic 4

Conflicting classifications of pathogenicity 5

Benign 17

Benign/Likely benign 5

Likely benign 40

Uncertain significance 91