ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1028C>T (p.Ala343Val) (rs769073940)

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 RCV000183656 SCV000236125 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing The Ala343Val variant in the NEXN gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although Ala343Val results in a conservative amino acid substitution of one neutral, non-polar amino acid for another, this substitution occurs at a position that is conserved across species. The Ala343Val variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, in silico analysis predicts Ala343Val is benign to the protein structure/function. In addition, mutations in nearby residues have not been reported, indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Ala343Val is a disease-causing 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.