ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys) (rs71310379)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631212 SCV000752226 uncertain significance Cowden syndrome 2017-11-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 60 of the PIK3CA protein (p.Gln60Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs71310379, ExAC 0.01%). This variant has not been reported in the literature as a germline variant in individuals with PIK3CA-related disease. An experimental study has shown that a human cell line harboring this missense change demonstrated a proliferation rate, acinar morphology, and invasion potential that was not significantly different from cells bearing the wild type PIK3CA protein (PMID: 18074223). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998159 SCV001154092 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing

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