ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.4677G>T (p.Glu1559Asp) (rs764159927)

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, Partners HealthCare Personalized Medicine RCV000615159 SCV000713705 uncertain significance not specified 2017-10-03 criteria provided, single submitter clinical testing The p.Glu1559Asp variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 49/62630 European chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs764159927). Although this variant has been seen in the general population, it s frequency is not high enough to rule out a pathogenic role. Computational pred iction tools and conservation analysis suggest that the p.Glu1559Asp variant may not impact the protein, though this information is not predictive enough to rul e out pathogenicity. In summary, the clinical significance of the p.Glu1559Asp v ariant is uncertain. ACMG/AMP Criteria applied: BP4 (Richards 2015).
GeneDx RCV001544770 SCV001763968 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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.