ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.181C>A (p.Leu61Ile)

dbSNP: rs2108385717
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002023689 SCV002306770 uncertain significance Cowden syndrome 2021-05-07 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 61 of the PIK3CA protein (p.Leu61Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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