ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2513G>C (p.Cys838Ser)

dbSNP: rs1725157266
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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 RCV001351792 SCV001546289 uncertain significance Cowden syndrome 2020-08-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 838 of the PIK3CA protein (p.Cys838Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency). 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.

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