Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001959890 | SCV002214853 | uncertain significance | Neurofibromatosis, type 1 | 2021-02-20 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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. 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 not expected to disrupt NF1 protein function. This variant has not been reported in the literature in individuals with NF1-related conditions. This sequence change replaces lysine with glutamine at codon 1724 of the NF1 protein (p.Lys1724Gln). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamine. |
| Ambry Genetics | RCV004996128 | SCV005452005 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2024-07-30 | criteria provided, single submitter | clinical testing | The p.K1724Q variant (also known as c.5170A>C), located in coding exon 36 of the NF1 gene, results from an A to C substitution at nucleotide position 5170. The lysine at codon 1724 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |