ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs71310379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631212 SCV000752226 uncertain significance Cowden syndrome 2022-05-15 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PIK3CA protein function. 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. Experimental studies have shown that this missense change does not substantially affect PIK3CA function (PMID: 18074223). ClinVar contains an entry for this variant (Variation ID: 526635). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. This variant is present in population databases (rs71310379, gnomAD 0.008%). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 60 of the PIK3CA protein (p.Gln60Lys).
CeGaT Center for Human Genetics Tuebingen RCV000998159 SCV001154092 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000998159 SCV001753781 likely benign not provided 2019-11-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18074223)

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