Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000158255 | SCV000208190 | pathogenic | not provided | 2022-08-02 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 20624503, 33673806, 20800588, 23140321) |
Blueprint Genetics | RCV000158255 | SCV000927423 | likely pathogenic | not provided | 2017-10-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001056155 | SCV001220578 | pathogenic | Hypertrophic cardiomyopathy | 2019-01-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This variant has been observed in an individual affected with hypertrophic cardiomyopathy (PMID: 20624503). ClinVar contains an entry for this variant (Variation ID: 181019). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys1244*) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. |
Center of Genomic medicine, |
RCV003387438 | SCV004098981 | pathogenic | Hypertrophic cardiomyopathy 4 | 2023-01-13 | criteria provided, single submitter | clinical testing |