Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319364 | SCV001184656 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-12-27 | criteria provided, single submitter | clinical testing | The p.V1557I variant (also known as c.4669G>A), located in coding exon 35 of the NF1 gene, results from a G to A substitution at nucleotide position 4669. The valine at codon 1557 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001361540 | SCV001557517 | uncertain significance | Neurofibromatosis, type 1 | 2020-01-23 | 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: "Tolerated"; PolyPhen-2: "Possibly 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 valine with isoleucine at codon 1557 of the NF1 protein (p.Val1557Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. |
Genome- |
RCV001361540 | SCV002560459 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |