ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.1808G>A (p.Arg603Gln)

dbSNP: rs2519527570
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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 RCV003079245 SCV003462428 uncertain significance not provided 2024-03-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 602 of the DDX3X protein (p.Arg602Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with intellectual disability (PMID: 30349862). ClinVar contains an entry for this variant (Variation ID: 2152342). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV003079245 SCV005888929 pathogenic not provided 2024-09-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32714884, 30349862)

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