ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.817A>G (p.Ile273Val)

gnomAD frequency: 0.00002  dbSNP: rs765030404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692375 SCV000820195 uncertain significance Cowden syndrome 2023-01-09 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 571273). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. This variant is present in population databases (rs765030404, gnomAD 0.005%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 273 of the PIK3CA protein (p.Ile273Val).
Ambry Genetics RCV002532213 SCV003737661 likely benign Inborn genetic diseases 2022-01-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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