Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319266 | SCV001182212 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-07-12 | criteria provided, single submitter | clinical testing | The c.3604delG variant, located in coding exon 27 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 3604, causing a translational frameshift with a predicted alternate stop codon (p.A1202Lfs*13). 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. |
Invitae | RCV001381303 | SCV001579626 | pathogenic | Neurofibromatosis, type 1 | 2023-02-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala1202Leufs*13) 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: 823979). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV001381303 | SCV002559973 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |