Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001380138 | SCV001578086 | pathogenic | Neurofibromatosis, type 1 | 2023-08-10 | 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: 1068536). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg765Profs*26) 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). |
Ambry Genetics | RCV002456596 | SCV002738109 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-01-29 | criteria provided, single submitter | clinical testing | The c.2294delG pathogenic mutation, located in coding exon 19 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 2294, causing a translational frameshift with a predicted alternate stop codon (p.R765Pfs*26). 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 | RCV003469646 | SCV004190804 | likely pathogenic | Juvenile myelomonocytic leukemia | 2022-07-06 | criteria provided, single submitter | clinical testing |