Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230141 | SCV001402612 | pathogenic | Neurofibromatosis, type 1 | 2019-09-23 | criteria provided, single submitter | clinical testing | Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic. This nonsense change has been observed in an individual with clinical features of neurofibromatosis (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1406*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. |
MGZ Medical Genetics Center | RCV001230141 | SCV002581291 | pathogenic | Neurofibromatosis, type 1 | 2022-03-30 | criteria provided, single submitter | clinical testing |