Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319182 | SCV001174091 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-06-17 | criteria provided, single submitter | clinical testing | The c.1876delC pathogenic mutation, located in coding exon 17 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 1876, causing a translational frameshift with a predicted alternate stop codon (p.L626Ffs*5). 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 | RCV003467609 | SCV004199010 | likely pathogenic | Juvenile myelomonocytic leukemia | 2021-11-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003598018 | SCV004460798 | pathogenic | Neurofibromatosis, type 1 | 2023-05-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 820244). 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.Leu626Phefs*5) 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). |