ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) (rs1060500607)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466615 SCV000543222 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-05-23 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 24 of the DSP mRNA (c.5745dupT), causing a frameshift at codon 1916. This creates a premature translational stop signal in the last exon of the DSP mRNA (p.Lys1916*). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated DSP protein. While this truncation has not been reported in the literature, a truncating variant located downstream in exon 24 has been reported to be deleterious (PMID: 11063735). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.