ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter)

dbSNP: rs1131691548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493912 SCV000582361 pathogenic not provided 2025-01-02 criteria provided, single submitter clinical testing Apparently de novo variant in a patient with autism spectrum disorder in the published literature (PMID: 31526516); 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: 33057194, 36731504, 35982159, 34088660, 33004838, 30107084, 38113761, 35468861, 31526516)
GenomeConnect - Simons Searchlight RCV001265458 SCV001443590 pathogenic Autism spectrum disorder 2016-03-22 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-03-22 and interpreted as Pathogenic. Variant was initially reported on 2015-09-18 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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