Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000003454 | SCV003444532 | pathogenic | Neurofibromatosis, type 2 | 2022-05-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 3293). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 2 (PMID: 7913580). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln407*) in the NF2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). |
OMIM | RCV000003454 | SCV000023612 | pathogenic | Neurofibromatosis, type 2 | 1994-08-01 | no assertion criteria provided | literature only |