ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1193G>A (p.Arg398His)

dbSNP: rs748197872
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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 RCV000469926 SCV000541319 uncertain significance Cowden syndrome 2019-03-19 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces arginine with histidine at codon 398 of the PIK3CA protein (p.Arg398His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs748197872, ExAC <0.01%) but has not been reported in the literature in individuals with a PIK3CA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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