ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1432G>T (p.Asp478Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799707 SCV000939383 uncertain significance Cowden syndrome 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 478 of the PIK3CA protein (p.Asp478Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is present in population databases (rs772628045, ExAC 0.002%). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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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