ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) (rs879254352)

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 RCV000236571 SCV000294318 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2016-02-01 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotide in exon 24 of the DSP mRNA (c.8077_8080delAAAG), causing a frameshift at codon 2693. This creates a premature translational stop signal in the last exon of the DSP mRNA (p.Lys2693Profs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated DSP protein. While this particular variant has not been reported in the literature, truncating variants in the last exon of genes are not necessarily deleterious (PMID: 24274751), and the clinical significance of this variant is uncertain at this time. In summary, this is a novel truncating variant with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance

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.