Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV001290795 | SCV001478951 | likely pathogenic | Neurofibromatosis, type 1 | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002327629 | SCV002627388 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2022-05-13 | criteria provided, single submitter | clinical testing | The c.4145delG pathogenic mutation, located in coding exon 31 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 4145, causing a translational frameshift with a predicted alternate stop codon (p.G1382Vfs*3). 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. |
Labcorp Genetics |
RCV001290795 | SCV005843697 | pathogenic | Neurofibromatosis, type 1 | 2024-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly1382Valfs*3) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 996391). For these reasons, this variant has been classified as Pathogenic. |