ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs) (rs730880341)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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 Familial hypertrophic cardiomyopathy 4 criteria provided, single submitter clinical testing
Invitae RCV000234262 SCV000284222 pathogenic Hypertrophic cardiomyopathy 2015-11-14 criteria provided, single submitter clinical testing 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. While this particular variant has not been reported in the literature, truncating variants in MYBPC3 are known to be pathogenic (PMID: 19574547). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000234262 SCV000204170 pathogenic Hypertrophic cardiomyopathy 2013-03-05 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.