ClinVar Miner

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

dbSNP: rs1563625351
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760306 SCV000890158 pathogenic not provided 2021-02-10 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: 27321065, 33391964, 16155193, 25525159, 21158681, 33502061)
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824845 SCV000965739 pathogenic CHARGE association 2016-01-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000760306 SCV001480124 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Invitae RCV000824845 SCV002240583 pathogenic CHARGE association 2021-02-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with CHARGE syndrome (PMID: 16155193). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 620086). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg858*) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900).
MGZ Medical Genetics Center RCV000824845 SCV002579235 likely pathogenic CHARGE association 2021-07-12 criteria provided, single submitter clinical testing

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