Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000822317 | SCV000963115 | pathogenic | Neurofibromatosis, type 2 | 2022-11-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu445Glyfs*9) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 664255). This variant is also known as AGAGAGGAG>AGGAG in codon 445-446. This premature translational stop signal has been observed in individuals with neurofibromatosis type 2 (PMID: 8755919; Invitae). This variant is not present in population databases (gnomAD no frequency). |
Gene |
RCV003117609 | SCV003798903 | pathogenic | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | Frameshift 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; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Ruttledge et al., 1996); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 8755919, 31618753) |