Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001208229 | SCV001379606 | pathogenic | Neurofibromatosis, type 2 | 2019-06-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys20*) in the NF2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). This variant has been observed in an individual affected with neurofibromatosis type 2 (PMID: 9817921). This variant is not present in population databases (ExAC no frequency). |