Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229377 | SCV000284215 | pathogenic | Hypertrophic cardiomyopathy | 2023-09-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu545Valfs*20) 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 variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 237424). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV000620784 | SCV000737348 | pathogenic | Cardiovascular phenotype | 2016-04-27 | criteria provided, single submitter | clinical testing | The c.1633_1640delCTGGAGGT pathogenic mutation, located in coding exon 18 of the MYBPC3 gene, results from a deletion of 8 nucleotides between positions 1633 and 1640, causing a translational frameshift with a predicted alternate stop codon (p.L545Vfs*20). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |