Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002756862 | SCV003022707 | uncertain significance | Cowden syndrome | 2022-03-19 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 411 of the PIK3CA protein (p.Gly411Ala). |
| Ambry Genetics | RCV004661475 | SCV005153721 | uncertain significance | Inborn genetic diseases | 2024-05-02 | criteria provided, single submitter | clinical testing | The p.G411A variant (also known as c.1232G>C), located in coding exon 6 of the PIK3CA gene, results from a G to C substitution at nucleotide position 1232. The glycine at codon 411 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |