Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000632637 | SCV000753822 | pathogenic | Neurofibromatosis, type 2 | 2018-02-07 | criteria provided, single submitter | clinical testing | Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). For these reasons, this variant has been classified as Pathogenic. This variant has been reported in an individual affected with neurofibromatosis type II (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr266*) in the NF2 gene. It is expected to result in an absent or disrupted protein product. |