ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2920del (p.Thr974fs)

dbSNP: rs727505260
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156783 SCV000206504 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2014-08-22 criteria provided, single submitter clinical testing The Thr974fs variant in DSP has not been previously reported in individuals with cardiomyopathy. Data from large population studies is insufficient to assess th e frequency of this variant. This variant is predicted to cause a frameshift, wh ich alters the protein?s amino acid sequence beginning at position 974 and lead to a premature termination codon 3 amino acids downstream. This alteration is th en predicted to lead to a truncated or absent protein. Frameshift and nonsense v ariants in DSP have been reported in patients with ARVC (http://arvcdatabase.inf o/), but recent evidence supports that they can also cause DCM (Pugh 2014). In s ummary, although additional studies are required to fully establish its clinical significance, the Thr974fs variant is likely 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.