Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000003451 | SCV000955057 | pathogenic | Neurofibromatosis, type 2 | 2023-05-30 | 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: 3290). This premature translational stop signal has been observed in individuals with neurofibromatosis type 2 (PMID: 7913580, 8379998, 9391890, 12566519, 18033041, 27704245, 28737257). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg262*) 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). |
MGZ Medical Genetics Center | RCV000003451 | SCV002580183 | pathogenic | Neurofibromatosis, type 2 | 2022-06-10 | criteria provided, single submitter | clinical testing | |
Institute Of Human Genetics Munich, |
RCV000003451 | SCV002764807 | pathogenic | Neurofibromatosis, type 2 | 2020-11-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003231074 | SCV003929560 | pathogenic | not provided | 2023-05-16 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30325044, 8379998, 21175598, 29409008, 8889506, 18072270, 28737257, 31024808, 7913580, 10771486, 15684865, 18033041, 9643284, 7529050, 8882871, 11838794, 9817921, 27704245, 12566519, 9391890, 32724039, 33067351, 31273341) |
OMIM | RCV000003451 | SCV000023609 | pathogenic | Neurofibromatosis, type 2 | 1994-08-01 | no assertion criteria provided | literature only |