ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2054C>T (p.Ala685Val)

gnomAD frequency: 0.00051  dbSNP: rs146218038
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV000216150 SCV000270607 benign not specified 2017-11-22 criteria provided, single submitter clinical testing p.Ala685Val in exon 20 of NEBL: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of note, orangutan, Chinese tree shrew, naked mole rat and rabbit have a valine (Va l) at this position despite high nearby amino acid conservation. In addition, co mputational prediction tools do not suggest a high likelihood of impact to the p rotein. In addition, this variant has been identified in 0.2% (55/25788) of Eur opean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broa dinstitute.org; dbSNP rs146218038). BA1, BP4
Invitae RCV000862665 SCV001003200 likely benign Primary dilated cardiomyopathy 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001762460 SCV002008520 likely benign not provided 2019-06-18 criteria provided, single submitter clinical testing

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.