ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2056C>A (p.Leu686Met)

dbSNP: rs1724954145
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001338711 SCV001532397 uncertain significance Cowden syndrome 2020-07-12 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PIK3CA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with methionine at codon 686 of the PIK3CA protein (p.Leu686Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine.

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