ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter) (rs1057524677)

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Total submissions: 2
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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 Praxis fuer Humangenetik Tuebingen RCV000440969 SCV000608692 likely pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing

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