ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14719G>A (p.Val4907Ile)

dbSNP: rs373391623
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000613755 SCV000712384 uncertain significance not specified 2016-07-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val4907Ile va riant in GPR98 has not been previously reported in individuals with hearing loss or Usher syndrome, but it has been identified in 2/8614 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs373391623). Although this variant has been seen in the general population, it s frequency is not high enough to rule out a pathogenic role. The valine (Val) a t position 4907 is not highly conserved in mammals and evolutionary distant spec ies. Of note, 1 mammal (Golden hamster) has an isoleucine (Ile) despite high nea rby amino acid conservation, suggesting that this change at this position may be tolerated. Computational prediction tools and conservation analyses suggest th at this variant may not impact the protein, though this information is not predi ctive enough to rule out pathogenicity. In summary, while the clinical significa nce of the p.Val4907Ile variant is uncertain, these data suggest that it is more likely to be benign.
Invitae RCV001227797 SCV001400171 likely benign not provided 2023-12-18 criteria provided, single submitter clinical testing

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.