ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter)

dbSNP: rs875989879
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000211558 SCV000268517 pathogenic CHARGE association 2016-03-29 criteria provided, single submitter clinical testing This de novo mutation in the CHD7 gene in the patient with the CHARGE syndrome has been described in an another patient with the same syndrome.
Ambry Genetics RCV000623636 SCV000741058 pathogenic Inborn genetic diseases 2015-10-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000211558 SCV001365930 pathogenic CHARGE association 2020-01-14 criteria provided, single submitter clinical testing The p.Arg2098X variant in CHD7 has been previously reported de novo in 1 individual with CHARGE syndrome (Gennery 2008), and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 2098, which is predicted to lead to a truncated or absent protein. Loss of function of the CHD7 gene is an established disease mechanism in autosomal dominant CHARGE syndrome. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant CHARGE syndrome. ACMG/AMP criteria applied: PVS1, PM2, PM6.
GeneDx RCV001565316 SCV001788642 pathogenic not provided 2021-03-31 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 18505430, 33240318, 25525159, 32477919, 21554267, 22461308, 21158681)
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001565316 SCV001953627 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001565316 SCV001972328 pathogenic not provided no assertion criteria provided clinical testing

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