Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001240190 | SCV001413115 | pathogenic | Neurofibromatosis, type 1 | 2019-10-20 | criteria provided, single submitter | clinical testing | Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been observed in an individual affected with neurofibromatosis type 1 (PMID: 19142971). This variant is also descirbed as c.1830_1836del4 in the literature. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Leu612Lysfs*18) in the NF1 gene. It is expected to result in an absent or disrupted protein product. |