ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) (rs869025465)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208490 SCV000264051 likely pathogenic Primary familial hypertrophic cardiomyopathy 2015-11-26 criteria provided, single submitter clinical testing
Invitae RCV000699273 SCV000827975 pathogenic Hypertrophic cardiomyopathy 2018-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val385Metfs*16) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 15114369, 28615295). This variant is also known in the literature as g10080-96delCTGACCGTGGAACTGG. ClinVar contains an entry for this variant (Variation ID: 222706). Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). For these reasons, this variant has been classified as Pathogenic.

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