Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037271 | SCV000060928 | pathogenic | Arrhythmogenic right ventricular cardiomyopathy | 2018-04-23 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Gene |
RCV000181243 | SCV000233522 | pathogenic | not provided | 2021-07-12 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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; A different nucleotide change (c.1773 T>A) leading to the same nonsense variant has been reported in HGMD (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 27535533, 31402444, 25157032, 21606390, 17105751, 19279339, 19095136) |
Ai |
RCV000181243 | SCV002501801 | pathogenic | not provided | 2022-01-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003517132 | SCV004297822 | pathogenic | Arrhythmogenic right ventricular dysplasia 10 | 2023-07-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys591*) in the DSG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 17105751, 31386562). This variant is present in population databases (rs774105846, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of DSG2-related conditions (PMID: 17105751). ClinVar contains an entry for this variant (Variation ID: 44286). For these reasons, this variant has been classified as Pathogenic. |