ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.152-1G>A

dbSNP: rs1131691769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002541039 SCV003225219 likely pathogenic not provided 2022-11-28 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the DDX3X gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DDX3X are known to be pathogenic (PMID: 26235985). This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1319946). This variant has not been reported in the literature in individuals affected with DDX3X-related conditions.
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001771822 SCV002011775 pathogenic Intellectual disability, X-linked 102 2021-08-25 no assertion criteria provided clinical testing

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