Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002434414 | SCV001189384 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2022-10-27 | criteria provided, single submitter | clinical testing | The p.V2627G variant (also known as c.7880T>G), located in coding exon 53 of the NF1 gene, results from a T to G substitution at nucleotide position 7880. The valine at codon 2627 is replaced by glycine, 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. |
Athena Diagnostics Inc | RCV001288254 | SCV001475230 | uncertain significance | not provided | 2019-11-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001288254 | SCV002008091 | uncertain significance | not provided | 2021-04-12 | criteria provided, single submitter | clinical testing | 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 |
Invitae | RCV001862388 | SCV002160277 | uncertain significance | Neurofibromatosis, type 1 | 2023-08-01 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 827310). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2627 of the NF1 protein (p.Val2627Gly). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NF1 protein function. 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. |
Genome- |
RCV001862388 | SCV002561159 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |