Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660074 | SCV000782044 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660074 | SCV002139803 | pathogenic | Neurofibromatosis, type 1 | 2022-07-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site is associated with altered splicing resulting in an unknown protein product impact (Invitae). This sequence change affects an acceptor splice site in intron 36 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 individuals with neurofibromatosis type 1 (PMID: 10980545, 18546366, 25325900, 26056819; Invitae). ClinVar contains an entry for this variant (Variation ID: 547657). |
Genome- |
RCV000660074 | SCV002560107 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002275124 | SCV002562275 | pathogenic | not provided | 2022-10-13 | criteria provided, single submitter | clinical testing | Canonical splice site variant demonstrated to result in a null allele in a gene for which loss of function is a known mechanism of disease (Pros et al., 2008); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26056819, 16937374, 18021924, 18546366, 10980545) |