ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.379C>T (p.Gln127Ter)

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 RCV001195541 SCV001365922 pathogenic Rare genetic deafness 2019-12-23 criteria provided, single submitter clinical testing The p.Gln139X variant in OTOG has been reported by our laboratory in 1 individual with hearing loss who harbored the c.2116+5G>C variant of uncertain significance in trans. The p.Gln139X variant is absent from large population studies. This nonsense variant leads to a premature termination codon at position 139, which is predicted to lead to a truncated or absent protein. Loss of function of the OTOG gene is an established disease mechanism in autosomal recessive hearing loss. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as pathogenic for autosomal recessive hearing loss. ACMG/AMP Criteria applied: PVS1, PM2, PM3_Supporting.

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.