Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000631217 | SCV000752231 | uncertain significance | Cowden syndrome | 2018-02-06 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PIK3CA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with threonine at codon 187 of the PIK3CA protein (p.Lys187Thr). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and threonine. |
| Ambry Genetics | RCV002343198 | SCV002648899 | uncertain significance | Inborn genetic diseases | 2023-10-15 | criteria provided, single submitter | clinical testing | The p.K187T variant (also known as c.560A>C), located in coding exon 2 of the PIK3CA gene, results from an A to C substitution at nucleotide position 560. The lysine at codon 187 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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. |