ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser) (rs1553820694)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626895 SCV000747598 uncertain significance Seizures; Focal seizures; Heterotopia; Agenesis of corpus callosum 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000695314 SCV000823804 uncertain significance Cowden syndrome 2018-05-25 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 248 of the PIK3CA protein (p.Gly248Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PIK3CA-related disease. 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 C55"). 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.

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