ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6676G>A (p.Glu2226Lys)

gnomAD frequency: 0.00003  dbSNP: rs397517433
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 RCV000039611 SCV000063300 uncertain significance not specified 2013-02-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Glu2226Lys vari ant in GPR98 has not been previously identified by our laboratory and it has not been identified in large and broad African American and European American popul ations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/) . Computational analyses (biochemical amino acid properties, conservation, Align GVGD, PolyPhen2, and SIFT) suggest that the Glu2226Lys variant may not impact th e protein, particularly with the Glu2226 amino acid not conserved in rat or lowe r species. However, this information is not predictive enough to rule out pathog enicity. In summary, the clinical significance of this variant cannot be determi ned with certainty; however based upon the reduced conservation, we would lean t owards a more likely benign role.

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.