ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5128G>A (p.Gly1710Arg) (rs775186197)

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 RCV000611904 SCV000712063 uncertain significance not specified 2016-05-02 criteria provided, single submitter clinical testing The p.Gly1710Arg variant in LOXHD1 has not been previously reported in individua ls with hearing loss and data from large population studies are insufficient to assess the frequency of this variant in the general population. Computational pr ediction tools and conservation analysis suggest that the p.Gly1710Arg variant m ay impact the protein, though this information is not predictive enough to deter mine pathogenicity. In summary, the clinical significance of the p.Gly1710Arg va riant is uncertain.

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.