ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.5389C>T (p.Arg1797Ter)

dbSNP: rs1887710442
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268737 SCV001447882 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268737 SCV001772056 pathogenic not provided 2024-05-19 criteria provided, single submitter clinical testing 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, 36368308, 35982159, 33004838, 31526516, 34088660)

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