Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001888292 | SCV002142473 | uncertain significance | Cowden syndrome | 2021-08-22 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. 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. 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 PIK3CA protein function. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 512 of the PIK3CA protein (p.Gly512Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. |
| Ambry Genetics | RCV002397823 | SCV002705822 | uncertain significance | Inborn genetic diseases | 2022-02-07 | criteria provided, single submitter | clinical testing | The p.G512A variant (also known as c.1535G>C), located in coding exon 8 of the PIK3CA gene, results from a G to C substitution at nucleotide position 1535. The glycine at codon 512 is replaced by alanine, 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. |