Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000627125 | SCV000747928 | likely pathogenic | not provided | 2017-04-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002529804 | SCV003007557 | pathogenic | Arrhythmogenic right ventricular dysplasia 11 | 2022-07-11 | 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: 523695). This premature translational stop signal has been observed in individual(s) with arrhythmogenic cardiomyopathy (PMID: 33258288). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe708Hisfs*14) 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). |