ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.1514G>A (p.Trp505Ter) (rs1553122276)

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
Invitae RCV000640569 SCV000762162 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate C 2017-10-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the YARS gene (p.Trp505*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 24 amino acids of the YARS protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with YARS-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.