Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001202612 | SCV001373731 | uncertain significance | Neurofibromatosis, type 1 | 2023-12-29 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1386 of the NF1 protein (p.Ser1386Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 934258). 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 with a positive predictive value of 95%. 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. |
| Illumina Laboratory Services, |
RCV001202612 | SCV004123250 | uncertain significance | Neurofibromatosis, type 1 | 2023-05-31 | criteria provided, single submitter | clinical testing | The NF1 c.4220G>A (p.Ser1407Asn) missense variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant is reported in the Genome Aggregation Database in one allele at a frequency of 0.0000147 in the European (non-Finnish) population (version 3.1.2). Based on the available evidence, the c.4220G>A (p.Ser1407Asn) variant is classified as a variant of uncertain significance for neurofibromatosis, type 1. |