ClinVar Miner

Submissions for variant NC_000011.10:g.77160277G>A

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 RCV000825400 SCV000966697 uncertain significance not specified 2018-07-03 criteria provided, single submitter clinical testing The p.Val399Ile variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome. This variant has been identified in 1/871 2 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad. Computational prediction tools and conservation analyses su ggest that this variant may not impact the protein, though this information is n ot predictive enough to rule out pathogenicity. In summary, the clinical signifi cance of the p.Val399Ile variant is uncertain. ACMG/AMP Criteria applied: BP4, 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.