ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.3197C>T (p.Ala1066Val) (rs1253171657)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803359 SCV000943225 uncertain significance Cowden syndrome 2018-12-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1066 of the PIK3CA protein (p.Ala1066Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the germline of in individuals with PIK3CA-related conditions. This variant has been reported to affect PIK3CA protein function (PMID: 22430209). 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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