ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.661A>G (p.Ile221Val)

dbSNP: rs1724405654
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001313790 SCV001504296 uncertain significance Cowden syndrome 2020-08-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 221 of the PIK3CA protein (p.Ile221Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. 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 conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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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