ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1904C>T (p.Ala635Val)

gnomAD frequency: 0.00001  dbSNP: rs727503335
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, Mass General Brigham Personalized Medicine RCV000151535 SCV000199655 uncertain significance not specified 2013-11-14 criteria provided, single submitter clinical testing The Ala635Val variant in NEBL has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide s trong support for or against an impact to the normal function of the protein. Ad ditional information is needed to fully assess the clinical significance of this 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.