ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1002_1004del (p.Arg336del) (rs794729090)

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
GeneDx RCV000183678 SCV000236147 uncertain significance not provided 2014-05-27 criteria provided, single submitter clinical testing The c.1002_1004delAAG variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.1002_1004delAAG variant was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1002_1004delAAG variant results in the deletion of a well-conserved arginine residue at position 336 and does not cause a shift in reading frame. Another non-frameshift mutation in the NEXN gene has been reported in association with DCM; however, no disease-causing mutations have been reported in nearby residues, suggesting this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign 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.