ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)

dbSNP: rs1057518707
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000414932 SCV000746867 likely pathogenic Intellectual disability, X-linked 102 2017-12-18 criteria provided, single submitter clinical testing
GeneDx RCV004783781 SCV005396402 likely pathogenic not provided 2024-05-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26235985, 30734472, 32852922, 37904618, 32135084, 27959697, 30349862, 32714884)
Baylor Genetics RCV000414932 SCV000328816 pathogenic Intellectual disability, X-linked 102 2016-05-01 no assertion criteria provided clinical testing Our laboratory has reported dual molecular diagnoses in COL7A1 (NM_000094.3:c.6900+4A>G) and DDX3X (NM_001356.3:c.1052G>A) in an individual with microcephaly, delayed motor milestones, delayed speech, hypotonia, hyperreflexia, repetitive behaviors, dysmorphic features, mild conductive hearing loss, mild epidermolysis bullosa (EB) and a history of prematurity and genital anomalies.
GeneReviews RCV000414932 SCV002098135 not provided Intellectual disability, X-linked 102 no assertion provided literature only Observed in the hemizygous state in an affected male & in the heterozygous state in an unaffected female relative [Snijders Blok et al 2015, Wang et al 2018, Lennox et al 2020]

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