ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6082C>T (p.Arg2028Trp) (rs569341831)

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 RCV000611506 SCV000712106 uncertain significance not specified 2016-05-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg2028Trp va riant in LOXHD1 has not been previously reported in individuals with hearing los s, but has been identified in 0.2% (14/7914) of South Asian chromosomes by the E xome Aggregation Consortium (ExAC,; dbSNP rs56934 1831). The arginine (Arg) at position 2028 is not highly conserved in mammals an d evolutionary distant species, and 1 mammal (David's myotis bat) carries a tryp tophan (Trp) at this position, raising the possibility that this change at this position may be tolerated. Additional computational prediction tools do not prov ide strong support for or against an impact to the protein. In summary, while th e clinical significance of the p.Arg2028Trp variant is uncertain, these data sug gest 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.