ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs71310379
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631212 SCV000752226 uncertain significance Cowden syndrome 2022-05-15 criteria provided, single submitter clinical testing 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). This variant is present in population databases (rs71310379, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. ClinVar contains an entry for this variant (Variation ID: 526635). 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. Experimental studies have shown that this missense change does not substantially affect PIK3CA function (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 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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.