ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1126A>G (p.Lys376Glu)

dbSNP: rs886041591
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000394419 SCV000330281 pathogenic not provided 2023-07-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26860062, 26520804)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003236667 SCV003935184 pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-06-26 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849360 SCV002106993 pathogenic Seizure 2021-04-05 no assertion criteria provided literature only

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