Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001213438 | SCV001385068 | pathogenic | Neurofibromatosis, type 1 | 2023-07-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1272*) 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: 943279). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV004557424 | SCV001445153 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-05-08 | criteria provided, single submitter | clinical testing | The p.Q1272* pathogenic mutation (also known as c.3814C>T), located in coding exon 28 of the NF1 gene, results from a C to T substitution at nucleotide position 3814. This changes the amino acid from a glutamine to a stop codon within coding exon 28. This alteration was identified amongst a cohort of 1985 patients with a clinical diagnosis or symptoms of NF1 (van Minkelen R et al. Clin Genet, 2014 Apr;85:318-27). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
| Genome- |
RCV001213438 | SCV002559990 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV002276662 | SCV002567332 | pathogenic | not provided | 2022-03-03 | criteria provided, single submitter | clinical testing | Nonsense 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23656349) |
| Baylor Genetics | RCV003462717 | SCV004190770 | pathogenic | Juvenile myelomonocytic leukemia | 2023-01-04 | criteria provided, single submitter | clinical testing |