Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Genetics and Molecular Cardiology, |
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, |
RCV000234262 | SCV000204170 | pathogenic | Hypertrophic cardiomyopathy | 2013-03-05 | no assertion criteria provided | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |