ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) (rs140474226)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000210378 SCV000196739 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2014-06-01 criteria provided, single submitter research
Invitae RCV000692510 SCV000820337 pathogenic Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-07-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1394*) in the DSP gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs140474226, ExAC 0.002%). This variant was observed in an individual affected with arrhythmogenic right ventricular dysplasia/cardiomyopathy (PMID: 27831900).  ClinVar contains an entry for this variant (Variation ID: 162505). Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). 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.