Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000632635 | SCV000753820 | likely benign | Neurofibromatosis, type 2 | 2024-12-27 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000632635 | SCV000839524 | uncertain significance | Neurofibromatosis, type 2 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000632635 | SCV002044890 | uncertain significance | Neurofibromatosis, type 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388018 | SCV002697911 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-06 | criteria provided, single submitter | clinical testing | The p.P482L variant (also known as c.1445C>T), located in coding exon 13 of the NF2 gene, results from a C to T substitution at nucleotide position 1445. The proline at codon 482 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
All of Us Research Program, |
RCV000632635 | SCV005431304 | uncertain significance | Neurofibromatosis, type 2 | 2024-07-29 | criteria provided, single submitter | clinical testing | This missense variant replaces proline with leucine at codon 482 of the NF2 protein. Computational prediction suggests that this variant may not impact protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with NF2-related disorders in the literature. This variant has been identified in 2/167120 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |