ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3428A>T (p.Asp1143Val) (rs727503143)

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 RCV000150977 SCV000198656 uncertain significance not specified 2013-06-11 criteria provided, single submitter clinical testing The Asp1143Val in LOXHD1 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino acid p roperties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the varian t may impact the protein, though this information is not predictive enough to de termine pathogenicity. In summary, additional information is needed to fully ass ess the clinical significance of the Asp1143Val variant.

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.