ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1430T>G (p.Ile477Ser) (rs727504658)

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, Partners HealthCare Personalized Medicine RCV000155922 SCV000205633 uncertain significance not specified 2014-03-07 criteria provided, single submitter clinical testing The Ile477Ser variant in NEXN has now been identified by our laboratory in 1 Ash kenazi Jewish adult with DCM/ARVC and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong s upport for or against an impact to the protein. However, isoleucine (Ile) at pos ition 477 is not conserved in mammals or evolutionarily distant species, raising the possibility that a change at this position may be tolerated. Additional inf ormation is needed to fully assess the clinical significance of the Ile477Ser va riant.

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.