Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598872 | SCV000709953 | likely pathogenic | not provided | 2023-06-15 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Deletions involving coding exons of this gene are a known mechanism of disease (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); Also known as IVS19a+1G>A; This variant is associated with the following publications: (PMID: 25525159, 18546366, 10607834) |
Center for Human Genetics, |
RCV000660028 | SCV000781974 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000660028 | SCV002559936 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660028 | SCV003442619 | pathogenic | Neurofibromatosis, type 1 | 2023-03-29 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 24 of the NF1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 24, but is expected to preserve the integrity of the reading-frame (PMID: 10607834). ClinVar contains an entry for this variant (Variation ID: 503702). This variant is also known as IVS19a+1G>A. Disruption of this splice site has been observed in individual(s) with neurofibromatosis type 1 (PMID: 10607834; Invitae). |