Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319283 | SCV001182781 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-09-18 | criteria provided, single submitter | clinical testing | The p.S1270T variant (also known as c.3808T>A), located in coding exon 28 of the NF1 gene, results from a T to A substitution at nucleotide position 3808. The serine at codon 1270 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly 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 | RCV001308430 | SCV001497879 | uncertain significance | Neurofibromatosis, type 1 | 2020-08-20 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 824244). This sequence change replaces serine with threonine at codon 1270 of the NF1 protein (p.Ser1270Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. |
Genome- |
RCV001308430 | SCV002560332 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |