Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000158209 | SCV000208144 | pathogenic | not provided | 2021-04-21 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); 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, 21302287, 27483260, 12951062) |
Invitae | RCV002515065 | SCV003440371 | pathogenic | Hypertrophic cardiomyopathy | 2022-05-09 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1012*) 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 premature translational stop signal has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 12951062, 33407484). ClinVar contains an entry for this variant (Variation ID: 180997). For these reasons, this variant has been classified as Pathogenic. |