Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319290 | SCV001182977 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2022-05-23 | criteria provided, single submitter | clinical testing | The p.L1297P variant (also known as c.3890T>C), located in coding exon 29 of the NF1 gene, results from a T to C substitution at nucleotide position 3890. The leucine at codon 1297 is replaced by proline, an amino acid with similar 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. |
Invitae | RCV001367688 | SCV001564047 | uncertain significance | Neurofibromatosis, type 1 | 2021-01-22 | 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. 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. This variant has not been reported in the literature in individuals with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 824344). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 1297 of the NF1 protein (p.Leu1297Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. |
Genome- |
RCV001367688 | SCV002560339 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |