Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000791961 | SCV000931232 | uncertain significance | Neurofibromatosis, type 1 | 2018-08-18 | criteria provided, single submitter | clinical testing | 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"). This variant has not been reported in the literature in individuals with NF1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with leucine at codon 1272 of the NF1 protein (p.Gln1272Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine. |
| Ambry Genetics | RCV004559652 | SCV005047776 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-05-21 | criteria provided, single submitter | clinical testing | The p.Q1272L variant (also known as c.3815A>T), located in coding exon 28 of the NF1 gene, results from an A to T substitution at nucleotide position 3815. The glutamine at codon 1272 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |