ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) (rs875989879)

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Total submissions: 3
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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 Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Laboratory for Molecular Medicine, Partners HealthCare 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.

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