Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820651 | SCV000961371 | pathogenic | Arrhythmogenic right ventricular dysplasia 11 | 2020-12-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro729Leufs*4) in the DSC2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DSC2 are known to be pathogenic (PMID: 18957847, 23863954, 23911551). This variant has not been reported in the literature in individuals with DSC2-related disease. |
Ambry Genetics | RCV003169008 | SCV003853629 | pathogenic | Cardiovascular phenotype | 2023-03-13 | criteria provided, single submitter | clinical testing | The c.2186delC pathogenic mutation, located in coding exon 14 of the DSC2 gene, results from a deletion of one nucleotide at nucleotide position 2186, causing a translational frameshift with a predicted alternate stop codon (p.P729Lfs*4). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |