Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001927643 | SCV002175081 | uncertain significance | Cowden syndrome | 2021-11-22 | criteria provided, single submitter | clinical testing | 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 63 of the PIK3CA protein (p.Gln63His). This variant is present in population databases (rs772678298, gnomAD 0.0009%). |
| Ambry Genetics | RCV003167085 | SCV003910073 | uncertain significance | Inborn genetic diseases | 2023-01-12 | criteria provided, single submitter | clinical testing | The p.Q63H variant (also known as c.189A>C), located in coding exon 1 of the PIK3CA gene, results from an A to C substitution at nucleotide position 189. The glutamine at codon 63 is replaced by histidine, an amino acid with highly 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. |