Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV000507597 | SCV000604527 | pathogenic | not specified | 2017-03-14 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001205875 | SCV001377155 | pathogenic | Neurofibromatosis, type 1 | 2023-02-13 | 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: 439998). This premature translational stop signal has been observed in individuals with neurofibromatosis 1 (PMID: 12872266, 16786508, 16944272, 17426081). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2471*) 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). |
| Genome- |
RCV001205875 | SCV002560574 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Clinical Genetics and Genomics, |
RCV001205875 | SCV005013304 | pathogenic | Neurofibromatosis, type 1 | 2024-03-11 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004559140 | SCV005048778 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-11-16 | criteria provided, single submitter | clinical testing | The p.Q2471* pathogenic mutation (also known as c.7411C>T), located in coding exon 50 of the NF1 gene, results from a C to T substitution at nucleotide position 7411. This changes the amino acid from a glutamine to a stop codon within coding exon 50. This alteration has been reported in numerous patients with a confirmed or suspected clinical diagnosis of neurofibromatosis type 1 (Origone P et al. Hum Mutat, 2003 Aug;22:179-80; Upadhyaya M et al. Hum Mutat, 2006 Jul;27:716; Bausch B et al. J Clin Endocrinol Metab, 2007 Jul;92:2784-92; Yao R et al. Genes (Basel), 2019 Oct;10:; Duat Rodríguez A et al. An Pediatr (Barc), 2015 Sep;83:173-82; Kang E et al. J Hum Genet, 2020 Jan;65:79-89). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |