Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000158350 | SCV000208285 | pathogenic | not provided | 2022-12-19 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Frameshift 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: 19808356, 24510615, 15519027, 27532257, 34542152, 18957093) |
Invitae | RCV000459152 | SCV000546473 | pathogenic | Hypertrophic cardiomyopathy | 2023-10-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu567Glyfs*4) 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: 15519027, 18957093, 27532257). This variant is also known as del ga (C566 fs/3), c.1699_1700delGA, and c.1699_1670delGA. ClinVar contains an entry for this variant (Variation ID: 181072). For these reasons, this variant has been classified as Pathogenic. |
Laboratory for Molecular Medicine, |
RCV000459152 | SCV000198886 | pathogenic | Hypertrophic cardiomyopathy | 2013-03-04 | no assertion criteria provided | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |