ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2255T>C (p.Leu752Pro)

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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 RCV002443625 SCV002735259 uncertain significance Inborn genetic diseases 2021-11-22 criteria provided, single submitter clinical testing The p.L752P variant (also known as c.2255T>C), located in coding exon 14 of the PIK3CA gene, results from a T to C substitution at nucleotide position 2255. The leucine at codon 752 is replaced by proline, 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.
Invitae RCV003753242 SCV004520438 uncertain significance Cowden syndrome 2023-01-24 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1788516). 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). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 752 of the PIK3CA protein (p.Leu752Pro).

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