ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.8326C>T (p.Arg2776Cys) (rs948010343)

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, Partners HealthCare Personalized Medicine RCV000825420 SCV000966718 uncertain significance not specified 2018-05-21 criteria provided, single submitter clinical testing The p.Arg2788Cys variant in OTOG has not been previously reported in individuals with hearing loss. This variant has been identified in 1/23796 of Latino chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs948010343). Computational prediction tools and conservation analysis suggest that the p.Arg2788Cys variant may impact the protein, though this infor mation is not predictive enough to determine pathogenicity. In summary, the clin ical significance of the p.Arg2788Cys variant is uncertain. ACMG/AMP Criteria ap plied: PM2, PP3.

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.