Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571634 | SCV000674155 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-13 | criteria provided, single submitter | clinical testing | The p.P257R variant (also known as c.770C>G), located in coding exon 8 of the NF2 gene, results from a C to G substitution at nucleotide position 770. The proline at codon 257 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001322314 | SCV001513180 | uncertain significance | Neurofibromatosis, type 2 | 2022-03-27 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 485989). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 257 of the NF2 protein (p.Pro257Arg). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). |
Genome- |
RCV001322314 | SCV002044860 | uncertain significance | Neurofibromatosis, type 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |