ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.954G>A (p.Met318Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700757 SCV000829528 uncertain significance Cowden syndrome 2018-04-25 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 318 of the PIK3CA protein (p.Met318Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs199605762, ExAC 0.001%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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