ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1759C>T (p.Arg587Trp) (rs540100675)

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 RCV000221110 SCV000271934 uncertain significance not specified 2015-12-31 criteria provided, single submitter clinical testing The p.Arg587Trp variant in LOXHD1 has not been previously reported in individual s with hearing loss, but has been identified in 1/198 Asian chromosomes by the 1 000 Genomes Project (dbSNP rs540100675). Computational prediction tools and cons ervation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg587Trp variant is unc ertain.

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.