Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696690 | SCV000825263 | pathogenic | Hypertrophic cardiomyopathy | 2022-07-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 164047). This premature translational stop signal has been observed in individual(s) with clinical features of MYBPC3-related conditions (PMID: 25611685, 27532257). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala1056Glyfs*9) 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). |
Laboratory for Molecular Medicine, |
RCV000696690 | SCV000198816 | pathogenic | Hypertrophic cardiomyopathy | 2013-03-04 | no assertion criteria provided | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |