Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319331 | SCV001183794 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-05-10 | criteria provided, single submitter | clinical testing | The p.P1411S variant (also known as c.4231C>T), located in coding exon 31 of the NF1 gene, results from a C to T substitution at nucleotide position 4231. The proline at codon 1411 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001862202 | SCV002133913 | uncertain significance | Neurofibromatosis, type 1 | 2021-06-22 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 824699). 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. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 1411 of the NF1 protein (p.Pro1411Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. |
Genome- |
RCV001862202 | SCV002560404 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |