Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001060499 | SCV001225192 | pathogenic | Neurofibromatosis, type 2 | 2019-02-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr144*) 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 nonsense change has been observed in individuals affected with neurofibromatosis type 2 (PMID: 9817921, 15684865 , 18033041). This variant is not present in population databases (ExAC no frequency). |
Prevention |
RCV003413876 | SCV004118417 | pathogenic | NF2-related condition | 2023-01-23 | criteria provided, single submitter | clinical testing | The NF2 c.431dupA variant is predicted to result in premature protein termination (p.Tyr144*). This variant was reported in an individual with neurofibromatosis type 2 (Patient 150 in Kluwe et al. 1998. PubMed ID: 9817921). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in NF2 are expected to be pathogenic. This variant is interpreted as pathogenic. |