Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV000757561 | SCV000885847 | pathogenic | not provided | 2017-12-15 | criteria provided, single submitter | clinical testing | The NF1 c.5855G>A; p.Trp1952Ter variant (also known as c.5792G>A; p.Trp1931Ter) is reported in at least one individual that fulfilled NIH criteria for a diagnosis of NF1 (Lee 2006). The variant is not reported in the ClinVar database, in the dbSNP variant database, or in the general population-based databases (Exome Variant Server, Genome Aggregation Database). This variant introduces a premature termination codon and is predicted to result in a truncated protein or mRNA subject to non-sense mediated decay. Considering available information, this variant is classified as pathogenic. References: Lee MJ et al. Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. Hum Mutat. 2006 Aug;27(8):832. |
| Labcorp Genetics |
RCV003495182 | SCV004296785 | pathogenic | Neurofibromatosis, type 1 | 2023-09-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp1931*) 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 premature translational stop signal has been observed in individual(s) with neurofibromatosis type I (PMID: 16835897). ClinVar contains an entry for this variant (Variation ID: 618754). |
| Juno Genomics, |
RCV003495182 | SCV005416681 | pathogenic | Neurofibromatosis, type 1 | criteria provided, single submitter | clinical testing | PVS1+PM2_Supporting+PS4_Supporting+PP4 |