Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208299 | SCV000264027 | likely pathogenic | Primary familial hypertrophic cardiomyopathy | 2015-02-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001853309 | SCV002126659 | pathogenic | Hypertrophic cardiomyopathy | 2021-01-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This nonsense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 27532257, 21817903, 30775854). ClinVar contains an entry for this variant (Variation ID: 222700). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr525*) 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). |