ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)

dbSNP: rs1057519927
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623233 SCV000742066 likely pathogenic Inborn genetic diseases 2017-01-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001821146 SCV002065887 likely pathogenic not provided 2021-11-16 criteria provided, single submitter clinical testing The p.Glu542Gly change affects a highly conserved amino acid residue located in a domain of the PIK3CA protein that is known to be functional. The p.Glu542Gly substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This particular amino acid change does not appear to have been described in the literature in other individuals with PIK3CA related disorders. However, a different pathogenic sequence change affecting the same amino acid residue (p.Glu542Lys) has been described in multiple individuals with PIK3CA-related segmental overgrowth disorders including megalencephaly-capillary malformation-polymicrogyria syndrome; (MCAP) and congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES syndrome) (PMIDs: 22658544, 27631024, 25044986). This sequence change has not been described in the population databases such as ExAC and gnomAD (dbSNP rs1057519927). These collective evidences indicate that this sequence change is likely pathogenic; however functional studies have not been performed to prove this conclusively.
Database of Curated Mutations (DoCM) RCV000423223 SCV000506889 likely pathogenic Neoplasm of uterine cervix 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430389 SCV000506890 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440193 SCV000506891 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422972 SCV000506892 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434554 SCV000506893 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443286 SCV000506894 likely pathogenic Prostate adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423683 SCV000506895 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434370 SCV000506896 likely pathogenic Small cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442566 SCV000506897 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425192 SCV000506898 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435067 SCV000506899 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442694 SCV000506900 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425864 SCV000506901 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436379 SCV000506902 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418283 SCV000506903 likely pathogenic Papillary renal cell carcinoma, sporadic 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428975 SCV000506904 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only

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