ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2368T>C (p.Ser790Pro)

dbSNP: rs2108418067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001967160 SCV002198199 uncertain significance Cowden syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 790 of the PIK3CA protein (p.Ser790Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1429104). 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"). 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.
Ambry Genetics RCV002442888 SCV002735008 uncertain significance Inborn genetic diseases 2024-01-19 criteria provided, single submitter clinical testing The p.S790P variant (also known as c.2368T>C), located in coding exon 15 of the PIK3CA gene, results from a T to C substitution at nucleotide position 2368. The serine at codon 790 is replaced by proline, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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