ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.302G>A (p.Arg101His)

gnomAD frequency: 0.00031  dbSNP: rs367971686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245370 SCV001418653 benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001550003 SCV001770259 likely benign not provided 2020-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003263891 SCV003977287 likely benign Inborn genetic diseases 2023-05-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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