Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598883 | SCV000710328 | likely pathogenic | not provided | 2019-10-02 | criteria provided, single submitter | clinical testing | 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; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001854125 | SCV002234385 | pathogenic | Arrhythmogenic right ventricular dysplasia 11 | 2021-05-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with DSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 504024). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile26Asnfs*10) 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). |