ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter)

dbSNP: rs1555318552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003229886 SCV003927781 pathogenic not provided 2022-11-28 criteria provided, single submitter clinical testing Seen in cohort of individuals with autism and/or intellectual disability; however, no further clinical information was provided (Wang et al., 2020); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33004838)
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251717 SCV001427458 pathogenic Autism 2019-01-01 no assertion criteria provided clinical testing
Molecular Genetics laboratory, Necker Hospital RCV003229886 SCV004031327 likely pathogenic not provided 2019-02-27 no assertion criteria provided clinical testing

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