Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001071461 | SCV001236767 | uncertain significance | Cowden syndrome | 2023-06-20 | 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PIK3CA protein function. ClinVar contains an entry for this variant (Variation ID: 864310). This variant is present in population databases (rs751557352, gnomAD 0.008%). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 501 of the PIK3CA protein (p.Ser501Thr). |
| Ambry Genetics | RCV002393344 | SCV002699411 | uncertain significance | Inborn genetic diseases | 2022-04-07 | criteria provided, single submitter | clinical testing | The p.S501T variant (also known as c.1501T>A), located in coding exon 8 of the PIK3CA gene, results from a T to A substitution at nucleotide position 1501. The serine at codon 501 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |