ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.40C>T (p.Gln14Ter)

dbSNP: rs1555950676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598857 SCV000710577 pathogenic not provided 2018-02-09 criteria provided, single submitter clinical testing The Q14X variant in the DDX3X gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q14X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q14X as a pathogenic variant, consistent with the clinical findings in this individual.
Diagnostic Laboratory, Strasbourg University Hospital RCV001260599 SCV001437691 pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing

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