ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) (rs1057519925)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000991209 SCV001142587 pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome 2019-05-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000991209 SCV001521015 pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome 2020-06-25 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526693 SCV001737114 pathogenic Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000430361 SCV000506827 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440626 SCV000506828 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422944 SCV000506829 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433137 SCV000506830 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443243 SCV000506831 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423945 SCV000506832 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434215 SCV000506833 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442682 SCV000506834 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425038 SCV000506835 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435327 SCV000506836 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785580 SCV000924154 likely pathogenic Neoplasm of ovary 2018-12-01 no assertion criteria provided research
MAGI's Lab - Research,MAGI Group RCV001327961 SCV001437637 pathogenic Abnormality of cardiovascular system morphology no assertion criteria provided provider interpretation

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