ClinVar Miner

Submissions for variant NC_000012.11:g.80632665_80732812del

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, Mass General Brigham Personalized Medicine RCV000826218 SCV000967790 likely pathogenic Rare genetic deafness 2019-02-27 criteria provided, single submitter clinical testing The deletion of exons 9-41 (of 58 total exons) in the OTOGL gene has not been previously reported in individuals with hearing loss, but has been reported in four different studies in the Database of Genomic Variants with the highest frequency of 2/1109 samples (http://dgv.tcag.ca; Variants dgv1530n100, esv2761110, esv3580340, and esv3580340). Similar deletions have also been reported in ClinVar (Variation IDs 601318, 613849,396434). This deletion encompasses a substantial proportion of the coding region of the OTOGL gene and likely results in a truncated or absent protein. Loss of function of the OTOGL gene is an established disease mechanism for autosomal recessive hearing loss. Breakpoints of the deletion were observed in the NGS read data. In summary, this variant is likely pathogenic for recessive sensorineural hearing loss based on its predicted impact to the protein. ACMG/AMP criteria applied: PVS1, PM2_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.