Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000641766 | SCV000763414 | pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2018-02-06 | criteria provided, single submitter | clinical testing | Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This sequence change creates a premature translational stop signal (p.Gln1757*) in the DSP gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSP-related disease. For these reasons, this variant has been classified as Pathogenic. |
Heart Center, |
RCV000850013 | SCV000992154 | likely pathogenic | Arrhythmogenic right ventricular dysplasia 9 | 2018-12-01 | criteria provided, single submitter | research | |
Revvity Omics, |
RCV003144420 | SCV003831642 | likely pathogenic | not provided | 2021-12-23 | criteria provided, single submitter | clinical testing |