ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.3546C>A (p.Tyr1182Ter)

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
King Laboratory, University of Washington RCV003155561 SCV003844131 pathogenic Autosomal recessive nonsyndromic hearing loss 18B 2023-02-28 criteria provided, single submitter research This variant occurred in compound heterozygosity with an OTOG missense variant in a patient with bilateral sensorineural hearing loss of onset <18 years, in a study of pediatric hearing loss conducted by the King Laboratory (Carlson RJ et al. JAMA-OtoHNS 2023). This patient's family has no other history of hearing loss. This variant is a nonsense that introduces a premature stop at position 1194 of 2925 in the OTOG protein. As of January 2023, this variant has not been reported to ClinVar and is found in 12 heterozygotes and 1 homozygote on gnomAD. Based on the prediction that this variant leads to a truncated protein and goodness of fit of genotype to phenotype, we conclude that this variant is pathogenic.

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.