ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter)

dbSNP: rs1057524677
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440969 SCV000536219 pathogenic not provided 2017-01-23 criteria provided, single submitter clinical testing The R564X variant in the CHD8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R564X variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R564X as a pathogenic variant.
CeGaT Center for Human Genetics Tuebingen RCV000440969 SCV000608692 likely pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401437 SCV004103777 pathogenic CHD8-related condition 2023-10-06 criteria provided, single submitter clinical testing The CHD8 c.1690C>T variant is predicted to result in premature protein termination (p.Arg564*). This variant has been reported in patients with CHD8-related intellectual developmental disorder with autism and macrocephaly (Tatton-Brown et al. 2017. PubMed ID: 28475857; Ostrowski et al. 2019. PubMed ID: 31721432; Dingemans et al. 2022. PubMed ID: 36182950). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in CHD8 are expected to be pathogenic. This variant is interpreted as pathogenic.

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