ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.3197C>T (p.Ala1066Val)

dbSNP: rs1253171657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803359 SCV000943225 uncertain significance Cowden syndrome 2018-12-07 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. This variant has been reported to affect PIK3CA protein function (PMID: 22430209). This variant has not been reported in the germline of in individuals with PIK3CA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 1066 of the PIK3CA protein (p.Ala1066Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
GeneDx RCV001772073 SCV002002565 pathogenic not provided 2023-05-23 criteria provided, single submitter clinical testing Reported in tumor tissue in individuals with breast cancer, uterine serous carcinoma, bladder cancer, non-endometrioidendometrial cancer, and other cancers (Hayes et al., 2009; John et al., 2017; Rudd et al., 2011; Castaneda et al., 2014); Published functional studies demonstrate that A1066T did not show a significant increase in AKT phosphorylation compared to wildtype (Ross et al., 2013); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25467032, 22330809, 22209294, 28915710, 33188943, 19789314, 21266528, 31842489, 26351634, 37162026, 36746516, 19272638, 22430209)

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