ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.949A>C (p.Met317Leu) (rs559464457)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155677 SCV000205387 likely benign not specified 2013-04-26 criteria provided, single submitter clinical testing Met317Leu in exon 9 of NEXN: This variant is not expected to have clinical signi ficance due to a lack of conservation across species, including mammals. Of note , 2 mammalian species as well as 2 more distant species have the variant amino a cid at this position and most other species have isoleucine (Ile) despite high n earby amino acid conservation. In addition, computational analyses (AlignGVGD, P olyPhen2, SIFT) do not suggest a high likelihood of impact to the protein.
GeneDx RCV000155677 SCV000727762 likely benign not specified 2018-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000647288 SCV000769077 likely benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-08-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170727 SCV001333330 benign Cardiomyopathy 2017-11-30 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.