ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.260G>C (p.Gly87Ala)

dbSNP: rs1555310861
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 RCV000605898 SCV000731610 likely pathogenic Rare genetic deafness 2019-09-13 criteria provided, single submitter clinical testing The p.Gly87Ala variant in COCH has been reported in one individual with adult-onset autosomal dominant hearing loss and segregated in two affected relatives. It has not been identified in large population studies. Glycine (Gly) at position 87 is highly conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not be tolerated. Furthermore, two different variants at the same amino acid position (p.Gly87Val and p.Gly87Trp) have been previously reported to segregate with hearing loss in 3 families manifesting autosomal dominant sensorineural hearing loss and vestibular dysfunction (Chen 2013, Collin 2006, Yang 2013). It is located in a functional domain enriched with variants identified in hearing loss patients (Bae 2014). In summary, while additional studies are required to establish fully its clinical significance, the p.Gly87Ala variant is likely pathogenic. ACMG/AMP Criteria applied: PM1, PM2, PM5, PP4, PP1.

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.