Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001225146 | SCV001397385 | pathogenic | Neurofibromatosis, type 1 | 2019-08-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This nonsense change has been observed in individuals affected with clinical features of neurofibromatosis type 1 (PMID: 29620724, 30308447). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1192*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. |