Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000816568 | SCV000957084 | pathogenic | Neurofibromatosis, type 1 | 2022-11-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 659543). This premature translational stop signal has been observed in individual(s) with a diagnosis or clinical suspicion of neurofibromatosis type 1 (PMID: 18546366). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser2414Argfs*12) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). |
Genome Diagnostics Laboratory, |
RCV000816568 | SCV001478919 | pathogenic | Neurofibromatosis, type 1 | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548109 | SCV001767963 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 18546366, 33443663) |
Genome- |
RCV000816568 | SCV002560566 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372307 | SCV002672453 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-09-11 | criteria provided, single submitter | clinical testing | The c.7240_7241delAG pathogenic mutation, located in coding exon 48 of the NF1 gene, results from a deletion of two nucleotides at nucleotide positions 7240 to 7241, causing a translational frameshift with a predicted alternate stop codon (p.S2414Rfs*12). This mutation was detected in an individual with either a diagnosis or clinical suspicion of Neurofibromatosis type 1 (NF1) (Pros E et al. Hum. Mutat., 2008 Sep;29:E173-93). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Baylor Genetics | RCV003461239 | SCV004199018 | pathogenic | Juvenile myelomonocytic leukemia | 2021-08-20 | criteria provided, single submitter | clinical testing |