ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.814T>C (p.Tyr272His)

gnomAD frequency: 0.00001  dbSNP: rs1724476312
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001863389 SCV002113340 uncertain significance Cowden syndrome 2021-05-13 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 tyrosine with histidine at codon 272 of the PIK3CA protein (p.Tyr272His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine.

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