Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001041256 | SCV001204859 | uncertain significance | Neurofibromatosis, type 1 | 2023-06-16 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 839486). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 2407 of the NF1 protein (p.Lys2407Ile). |
| Ambry Genetics | RCV002372771 | SCV002670231 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2020-03-04 | criteria provided, single submitter | clinical testing | The p.K2407I variant (also known as c.7220A>T), located in coding exon 48 of the NF1 gene, results from an A to T substitution at nucleotide position 7220. The lysine at codon 2407 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is well 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. |