Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002319206 | SCV001175061 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-08-13 | criteria provided, single submitter | clinical testing | The p.F694L variant (also known as c.2080T>C), located in coding exon 18 of the NF1 gene, results from a T to C substitution at nucleotide position 2080. The phenylalanine at codon 694 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001212284 | SCV001383864 | uncertain significance | Neurofibromatosis, type 1 | 2019-08-23 | 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 694 of the NF1 protein (p.Phe694Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. |
| Genome- |
RCV001212284 | SCV002561996 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV004812372 | SCV005437376 | uncertain significance | not provided | 2024-06-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365) |