Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659958 | SCV000781865 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000659958 | SCV000825245 | pathogenic | Neurofibromatosis, type 1 | 2023-08-19 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 2 of the NF1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with neurofibromatosis type 1 (PMID: 23913538, 25541118). ClinVar contains an entry for this variant (Variation ID: 547564). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 23913538). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV002274083 | SCV002559451 | pathogenic | not provided | 2023-07-06 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in patients with NF1 referred for genetic testing at GeneDx and in published literature (Sabbagh et al., 2013; Duat Rodrguez et al., 2015); This variant is associated with the following publications: (PMID: 23913538, 25541118, 36988593) |
Genome- |
RCV000659958 | SCV002561558 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002274083 | SCV002585629 | pathogenic | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | NF1: PVS1, PM2 |
Laboratory for Genotyping Development, |
RCV003163039 | SCV002758173 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |