ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter)

dbSNP: rs730880600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158255 SCV000208190 pathogenic not provided 2022-08-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 25525159, 20624503, 33673806, 20800588, 23140321)
Blueprint Genetics RCV000158255 SCV000927423 likely pathogenic not provided 2017-10-05 criteria provided, single submitter clinical testing
Invitae RCV001056155 SCV001220578 pathogenic Hypertrophic cardiomyopathy 2019-01-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This variant has been observed in an individual affected with hypertrophic cardiomyopathy (PMID: 20624503). ClinVar contains an entry for this variant (Variation ID: 181019). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys1244*) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product.
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV003387438 SCV004098981 pathogenic Hypertrophic cardiomyopathy 4 2023-01-13 criteria provided, single submitter clinical testing

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