ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.1461C>G (p.Phe487Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985207 SCV004801551 likely pathogenic Intellectual disability, X-linked 102 2018-09-26 criteria provided, single submitter clinical testing The DDX3X c.1461C>G p.(Phe487Leu) variant is a missense variant which, to our knowledge, has not been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 or version 4.0.0 of the Genome Aggregation Database. The Phe487 residue is located in the helicase domain, a domain that is enriched for mutations (Lennox et al. 2018). The variant was identified in a de novo state in the proband. Based on the available evidence, the c.1461C>G p.(Phe487Leu) variant is classified as likely pathogenic for intellectual developmental disorder, X-linked syndromic, Snijders Blok type.

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