Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039442 | SCV000063126 | likely pathogenic | Arrhythmogenic right ventricular cardiomyopathy | 2017-06-19 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Gene |
RCV000181144 | SCV000233421 | likely pathogenic | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing | Identified via whole exome sequencing in one individual without a known diagnosis of ARVC in the published literature, but additional clinical information was not provided (Carruth et al., 2019); 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31638835, 31402444) |
Invitae | RCV001781361 | SCV002221827 | pathogenic | Arrhythmogenic right ventricular dysplasia 11 | 2022-06-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 46199). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr282*) in the DSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551). |
Fulgent Genetics, |
RCV001781361 | SCV002814427 | likely pathogenic | Arrhythmogenic right ventricular dysplasia 11 | 2021-11-04 | criteria provided, single submitter | clinical testing |