ClinVar Miner

Submissions for variant NM_001193416.3(DDX3X):c.136C>T (p.Arg46Ter) (rs1569234653)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760483 SCV000890372 pathogenic not provided 2018-09-24 criteria provided, single submitter clinical testing The R46X pathogenic variant in the DDX3X gene has been reported previously as a de-novo variant in an individual with a specific learning disability, microcephaly, and moderate short stature (Fitzgerald et al., 2015). This pathogenic nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R46X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the presence of R46X is consistent with the diagnosis of a DDX3X-related disorder in this individual.
Mendelics RCV000990793 SCV001141832 pathogenic Mental retardation, X-linked 102 2019-05-28 criteria provided, single submitter clinical testing

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