ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2823G>A (p.Lys941=)

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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 RCV002592002 SCV003498828 uncertain significance Cowden syndrome 2022-07-09 criteria provided, single submitter clinical testing This sequence change affects codon 941 of the PIK3CA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PIK3CA protein. This variant is present in population databases (rs749961927, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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