ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7033G>A (p.Val2345Met) (rs188832359)

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 RCV000218003 SCV000272260 uncertain significance not specified 2015-09-30 criteria provided, single submitter clinical testing The p.Val2345Met variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 1/5920 of European chromosomes an d in 1/7670 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://; rs188832359). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Val2345Met variant i s uncertain.
GenomeConnect, ClinGen RCV000509298 SCV000606914 not provided Hearing loss no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.