Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000246815 | SCV000318177 | pathogenic | Cardiovascular phenotype | 2013-01-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003586173 | SCV004294792 | pathogenic | Hypertrophic cardiomyopathy | 2023-11-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys909*) 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: 263484). For these reasons, this variant has been classified as Pathogenic. |