Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000151164 | SCV001375854 | pathogenic | Hypertrophic cardiomyopathy | 2023-12-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val178Glyfs*7) 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). This premature translational stop signal has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 25611685). ClinVar contains an entry for this variant (Variation ID: 164148). For these reasons, this variant has been classified as Pathogenic. |
Laboratory for Molecular Medicine, |
RCV000151164 | SCV000198967 | pathogenic | Hypertrophic cardiomyopathy | 2013-03-05 | no assertion criteria provided | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |