ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) (rs574277214)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598111 SCV000704990 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195583 SCV001365978 likely benign not specified 2020-04-06 criteria provided, single submitter clinical testing The p.Arg787Cys variant in OTOF is classified as likely benign due to a lack of conservation across species. 3 mammals (squirrel, dolphin, killer whale) carry a cysteine (Cys) at this position despite high nearby amino acid conservation. ACMG/AMP Criteria applied: BP4_Strong.

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.