ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1669G>T (p.Asp557Tyr)

dbSNP: rs372272045
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003228005 SCV003924424 pathogenic not provided 2023-05-11 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: 29610475, 33818783)
PreventionGenetics, part of Exact Sciences RCV003407833 SCV004111108 likely pathogenic PIK3R2-related disorder 2022-12-19 criteria provided, single submitter clinical testing The PIK3R2 c.1669G>T variant is predicted to result in the amino acid substitution p.Asp557Tyr. This variant was reported to have occurred de novo in an individual with epilepsy, macrocephaly, and ventriculomegaly (Epilepsy Phenome/Genome Project, Epi4K Consortium 2021. PubMed ID: 33818783). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. A different nucleotide substitution affecting the same amino acid (p.Asp557His) has been reported de novo in an individual with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (Terrone et al. 2016. PubMed ID: 26860062). The c.1669G>T (p.Asp557Tyr) variant is interpreted as likely pathogenic.
Yale Center for Mendelian Genomics, Yale University RCV001849843 SCV002106992 likely pathogenic Seizure 2021-04-05 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.