ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.651_652del (p.Asp219fs)

dbSNP: rs2063876393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004528441 SCV004112067 likely pathogenic DDX3X-related disorder 2023-04-18 criteria provided, single submitter clinical testing The DDX3X c.651_652delAA variant is predicted to result in a frameshift and premature protein termination (p.Asp219Leufs*75). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in DDX3X are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252462 SCV001428219 pathogenic Intellectual disability, X-linked 102 2019-01-01 no assertion criteria provided clinical testing

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