ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys)

dbSNP: rs1064794574
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523821 SCV000621076 pathogenic not provided 2024-05-23 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: Kizhakeyil2021[Article], 26192917, 35982159, 33057194, 31785789, 27535533, 33504798)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000523821 SCV001448029 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287420 SCV002577739 likely pathogenic X-linked intellectual disability-hypotonia-movement disorder syndrome 2022-10-04 criteria provided, single submitter clinical testing PS4_moderate;PM1;PM5;PM6;PM2_supporting;PP2;PP3
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003151079 SCV003840193 likely pathogenic Intellectual disability, X-linked 102 2022-01-10 criteria provided, single submitter clinical testing

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