Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415207 | SCV000493046 | likely pathogenic | Cafe-au-lait spot; Axillary freckling; Plexiform neurofibroma | 2014-01-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001379465 | SCV001577268 | likely pathogenic | Neurofibromatosis, type 1 | 2023-08-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with NF1-related conditions. This sequence change affects an acceptor splice site in intron 38 of the NF1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 374204). Studies have shown that disruption of this splice site results in skipping of exon 40 and/or deletion of one nucleotide of exon 40 and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Gene |
RCV001591053 | SCV001817237 | pathogenic | not provided | 2023-02-27 | 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; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27535533) |
Genome- |
RCV001379465 | SCV002560151 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003470369 | SCV004199002 | likely pathogenic | Juvenile myelomonocytic leukemia | 2022-01-18 | criteria provided, single submitter | clinical testing |