ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter) (rs1064793890)

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
GeneDx RCV000483057 SCV000567280 pathogenic not provided 2015-07-13 criteria provided, single submitter clinical testing The Q2672X variant in the DSP gene has not been reported as a pathogenic variant or as a benignpolymorphism to our knowledge. Q2672X is predicted to result in a truncated protein product due to the lossof the last 200 amino acid residues and therefore cause loss of normal protein function. Other nonsensevariants in the DSP gene have been reported in HGMD in association with cardiomyopathy (Stenson P et al.,2014). Furthermore, the Q2672X variant was not observed in approximately 6,500 individuals of Europeanand African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. In summary, Q2672X in the DSP gene is interpreted as a pathogenic variant.

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.