Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |