ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs)

dbSNP: rs730880341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000154500 SCV000256171 likely pathogenic Hypertrophic cardiomyopathy 4 criteria provided, single submitter clinical testing
Invitae RCV000234262 SCV000284222 pathogenic Hypertrophic cardiomyopathy 2015-11-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This sequence change inserts 1 nucleotide in exon 24 of the MYBPC3 mRNA (c.2394dupT), causing a frameshift at codon 799. This creates a premature translational stop signal (p.Gly799Trpfs*34) and is expected to result in an absent or disrupted protein product.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000234262 SCV000204170 pathogenic Hypertrophic cardiomyopathy 2013-03-05 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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