ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11411G>A (p.Arg3804Gln)

gnomAD frequency: 0.00001  dbSNP: rs876657817
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 RCV000216623 SCV000271801 uncertain significance not specified 2016-03-14 criteria provided, single submitter clinical testing The p.Arg3804Gln variant in GPR98 has not been previously reported in individual s with hearing loss or Usher syndrome and is absent from large population studie s. Computational prediction tools and conservation analyses suggest that the p.A rg3804Gln variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg3804Gln variant is uncertain.

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.