ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1700_1701del (p.Glu567fs)

dbSNP: rs727503197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158350 SCV000208285 pathogenic not provided 2022-12-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift 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: 19808356, 24510615, 15519027, 27532257, 34542152, 18957093)
Invitae RCV000459152 SCV000546473 pathogenic Hypertrophic cardiomyopathy 2023-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu567Glyfs*4) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 15519027, 18957093, 27532257). This variant is also known as del ga (C566 fs/3), c.1699_1700delGA, and c.1699_1670delGA. ClinVar contains an entry for this variant (Variation ID: 181072). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000459152 SCV000198886 pathogenic Hypertrophic cardiomyopathy 2013-03-04 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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