ClinVar Miner

Submissions for variant NM_001042492.2(NF1):c.(?_-50)_(*68_?)del

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 RCV000603014 SCV000713849 pathogenic Neurofibromatosis, type 1 2018-02-06 criteria provided, single submitter clinical testing The whole gene deletion[c.(?_-50)_(*68_?)del] of NF1 has been reported in >70 in dividuals with Neurofibromatosis type 1, including both constitutional and mosai c occurrences (Kayes 1994, Rasmussen 1998, Kehrer-Sawatzki 2004, Vogt 2012, Bian chessi 2015, Yao 2016). This deletion encompasses the entire NF1 gene, though th e exact breakpoints of this deletion could not be determined due to limitations of the testing methodology. Similar deletions encompassing NF1 have been reporte d in ClinVar (Variation ID 237507). In summary, this variant meets criteria to b e classified as pathogenic for neurofibromatosis type 1 in an autosomal dominant manner. ACMG/AMP criteria applied: PVS1; PS4; PM2.

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.