ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1445G>C (p.Ser482Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002394449 SCV002699395 uncertain significance Inborn genetic diseases 2022-06-27 criteria provided, single submitter clinical testing The p.S482T variant (also known as c.1445G>C), located in coding exon 8 of the PIK3CA gene, results from a G to C substitution at nucleotide position 1445. The serine at codon 482 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.
Invitae RCV003753239 SCV004423426 uncertain significance Cowden syndrome 2023-01-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 482 of the PIK3CA protein (p.Ser482Thr). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1772793). 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).

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