ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) (rs1057519930)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631208 SCV000752222 uncertain significance Cowden syndrome 2017-09-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 106 of the PIK3CA protein (p.Gly106Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported as mosaic in blood and skin in an individual affected with a PIK3CA-related disease (PMID: 27631024). ClinVar contains an entry for this variant (Variation ID: 376479). Experimental studies have shown that this missense change enhances the activation of the PIK3CA protein in vitro (PMID: 22949682). 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.
Database of Curated Mutations (DoCM) RCV000427943 SCV000506930 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438620 SCV000506931 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422256 SCV000506932 likely pathogenic Uterine Carcinosarcoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432967 SCV000506933 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439354 SCV000506934 likely pathogenic Uterine cervical neoplasms 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422135 SCV000506935 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only

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