DDX17 — 28 ClinVar variants
All ClinVar germline DDX17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
2 Pathogenic · 3 Likely pathogenic · 1 Benign · 1 Likely benign · 21 Uncertain significance
Full DDX17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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.
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DDX17 p.Asn378Ser
Likely pathogenic
Single submitter
neurodevelopmental disorder
Predictors lean, ClinVar uncertain 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDX17 p.Ala22Thr Uncertain significance Single submitter
- DDX17 p.Ala48Val Uncertain significance Single submitter
- DDX17 p.Ala7Asp Uncertain significance Single submitter
- DDX17 p.Arg505His Uncertain significance Single submitter
- DDX17 p.Asp266His Uncertain significance Single submitter
- DDX17 p.Gly78Arg Uncertain significance Single submitter
- DDX17 p.Leu227Gln Uncertain significance Single submitter
- DDX17 p.Met183Thr Uncertain significance Single submitter
- DDX17 p.Trp459Cys Uncertain significance Single submitter
- DDX17 p.Tyr181Cys Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
- DDX17 p.Lys547Gln Uncertain significance Single submitter
- DDX17 p.Ser275Thr Uncertain significance Single submitter
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DDX17 p.Leu248Val
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
All DDX17 variants
Pathogenic 2
- c.738+1G>A Single submitter
- p.Pro139fs Single submitter
Likely pathogenic 3
- p.Arg511His Single submitter
- p.Asn378Ser Single submitter neurodevelopmental disorder ⚠
- p.Thr523Ala Single submitter
Benign 1
- p.Pro701= Multiple submitters
Likely benign 1
- p.Leu248Val No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
Uncertain significance 21
- c.1447+4T>C Single submitter intellectual developmental disorder, autosomal dominant 73
- c.1684+1G>A Single submitter DDX17-associated neurodevelopmental disorder
- c.1684+3A>T Single submitter
- p.Ala22Thr Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Ala7Asp Single submitter ⚠
- p.Arg430fs Single submitter
- p.Arg505His Single submitter ⚠
- p.Arg508Ter Single submitter
- p.Asp266His Single submitter ⚠
- p.Cys11fs Single submitter
- p.Cys166Ter Single submitter
- p.Gln550Ter Single submitter
- p.Gly561_Gly563del Single submitter
- p.Gly78Arg Single submitter ⚠
- p.Leu227Gln Single submitter ⚠
- p.Lys547Gln Single submitter ⚠
- p.Met183Thr Single submitter ⚠
- p.Ser275Thr Single submitter ⚠
- p.Trp459Cys Single submitter ⚠
- p.Tyr181Cys Single submitter ⚠