Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660015 | SCV000781956 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000760742 | SCV000890635 | pathogenic | not provided | 2021-01-26 | 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 in large population cohorts (Lek et al., 2016); Observed in individuals with neurofibromatosis type 1 referred for genetic testing at GeneDx and in published literature (Anastasaki et al., 2017); This variant is associated with the following publications: (PMID: 28481359, 28955729, 31776437) |
Invitae | RCV000660015 | SCV000957096 | pathogenic | Neurofibromatosis, type 1 | 2022-11-01 | 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: 547612). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 and glioma (PMID: 28955729). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln854*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). |
Genome- |
RCV000660015 | SCV002561794 | likely pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |