ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) (rs121913283)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631214 SCV000752228 pathogenic Cowden syndrome 2017-11-18 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 1043 of the PIK3CA protein (p.Met1043Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with megalencephaly-capillary malformation syndrome (PMID: 22729224). ClinVar contains an entry for this variant (Variation ID: 217292). Experimental studies have shown that this missense change increases PIK3CA basal kinase activity and lipid binding (PMID: 15930273, 22120714). For these reasons, this variant has been classified as Pathogenic.
Genomics and Pathology Services,Washington University in St.Louis RCV000201236 SCV000255983 pathogenic PIK3CA related overgrowth spectrum 2014-10-18 no assertion criteria provided clinical testing
Database of Curated Mutations (DoCM) RCV000442578 SCV000504942 likely pathogenic Neoplasm of the large intestine 2015-07-14 no assertion criteria provided literature only

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