ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu) (rs759982048)

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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202734 SCV000257969 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000485563 SCV000567942 uncertain significance not specified 2015-09-24 criteria provided, single submitter clinical testing A novel variant of unknown significance has been identified in the DSP gene. To our knowledge, theP2230L variant has not been published as a pathogenic variant or as a benign polymorphism. TheP2230L variant was not observed in approximately 6,500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. Additionally, the P2230L variant is a semi-conservative amino acidsubstitution, which may impact secondary protein structure as these residues differ in some properties.However, this substitution occurs at a position that is not conserved across species, and in silicoanalysis predicts this variant likely does not alter the protein structure/function. Moreover, missensevariants in nearby residues have not been reported in the Human Gene Mutation Database (Stenson etal., 2014).

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.