ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.683C>T (p.Pro228Leu) (rs372408513)

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 RCV000221211 SCV000271957 uncertain significance not specified 2017-01-10 criteria provided, single submitter clinical testing The p.Pro228Leu variant in LOXHD1 has been previously identified by our laborato ry in an individual with hearing loss that can be explained by pathogenic varian ts in another gene. It has been identified in 3/7912 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 372408513). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. Computational predict ion tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Pro228 Leu variant 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.