ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.262C>T (p.Arg88Trp)

gnomAD frequency: 0.00001  dbSNP: rs1260548574
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 RCV001195624 SCV001366023 uncertain significance not specified 2019-10-08 criteria provided, single submitter clinical testing The p.Arg100Trp variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.004% (1/22534) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.
GeneDx RCV003322865 SCV004027957 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.