ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) (rs1563625351)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760306 SCV000890158 pathogenic not provided 2018-08-09 criteria provided, single submitter clinical testing The R858X variant in the CHD7 gene has been reported previously in multiple unrelated individuals with CHARGE syndrome (Jongmans et al., 2006; Bartels et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R858X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R858X as a pathogenic variant.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824845 SCV000965739 pathogenic CHARGE association 2016-01-01 criteria provided, single submitter clinical testing

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