ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.652A>G (p.Ile218Val) (rs987363401)

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 RCV000481934 SCV000571751 uncertain significance not provided 2017-04-10 criteria provided, single submitter clinical testing The I218V variant of uncertain significance in the DSP gene has not been published as a pathogenic or benign variantto our knowledge. This 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 benign variant in thesepopulations. The I218V variant is a conservative amino acid substitution, which is not likely to impact secondaryprotein structure as these residues share similar properties. Furthermore, this substitution occurs at a position whereamino acids with similar properties to Isoleucine are tolerated across species, and V218 is tolerated in at least onespecies. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the proteinstructure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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.