Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001245975 | SCV001419302 | uncertain significance | Neurofibromatosis, type 1 | 2019-11-03 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces arginine with serine at codon 855 of the NF1 protein (p.Arg855Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. |
| Ambry Genetics | RCV004994369 | SCV005451962 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2024-07-09 | criteria provided, single submitter | clinical testing | The p.R855S variant (also known as c.2565A>C), located in coding exon 21 of the NF1 gene, results from an A to C substitution at nucleotide position 2565. The arginine at codon 855 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |