ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4082G>A (p.Arg1361His) (rs374474061)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670488 SCV000795345 uncertain significance Deafness, autosomal recessive 77 2017-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725787 SCV000339376 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220317 SCV000271945 uncertain significance not specified 2015-05-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg1361His va riant in LOXHD1 has not been previously reported in individuals with hearing los s, but has been identified in 0.3% (9/2738) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs374474061) . Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Arg1361His variant is uncertain, its frequency and lack o f evolutionarily conservation suggest that it is more likely to be benign.

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.