Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788916 | SCV000928208 | likely pathogenic | not provided | 2019-02-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001869212 | SCV002199441 | pathogenic | Hypertrophic cardiomyopathy | 2022-04-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 636943). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This sequence change creates a premature translational stop signal (p.Tyr842*) 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). |