Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000497188 | SCV001591761 | pathogenic | Neurofibromatosis, type 1 | 2025-01-20 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 44 of the NF1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or altered protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of neurofibromatosis, type 1 (PMID: 18546366; internal data). ClinVar contains an entry for this variant (Variation ID: 431680). Studies have shown that disruption of this splice site results in skipping of exon 36, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 18546366). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV002259343 | SCV002538907 | pathogenic | not provided | 2022-06-21 | criteria provided, single submitter | clinical testing | Canonical splice site variant demonstrated to result in skipping of exon 44, also referred to as exon 36 by alternate exon numbering, in patient mRNA and predicted 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); Also known as IVS36+2T>C; Observed in individuals with features consistent with neurofibromatosis in published literature and at GeneDx (Pros et al., 2008); This variant is associated with the following publications: (PMID: 25525159, 18546366) |
Genome- |
RCV000497188 | SCV002560212 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003464068 | SCV004198368 | pathogenic | Juvenile myelomonocytic leukemia | 2024-03-01 | criteria provided, single submitter | clinical testing | |
Medical Genetics, |
RCV000497188 | SCV000588825 | likely pathogenic | Neurofibromatosis, type 1 | 2017-02-02 | no assertion criteria provided | clinical testing |