ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5085+6G>A (rs373466081)

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 RCV000041214 SCV000064905 uncertain significance not specified 2013-02-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 5085+6G>A varia nt in LOXHD1 has not been reported in the literature nor previously identified b y our laboratory. This variant is located in the 5' splice region. Computational tools do not suggest and impact to splicing. However, this information is not p redictive enough to rule out pathogenicity. This variant has been identified in 0.03% (1/3182) of European American chromosomes in a broad population by the NHL BI Exome sequencing project ( Although this v ariant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. In summary, the clinical significance of this va riant cannot be determined with certainty; however, based upon the computational splicing predictions and its presence in the general population, we would lean towards a more likely benign role.

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.