ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1288C>G (p.Gln430Glu)

gnomAD frequency: 0.00002  dbSNP: rs754971694
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793308 SCV000932656 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 430 of the PIK3R2 protein (p.Gln430Glu). This variant is present in population databases (rs754971694, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PIK3R2-related conditions. ClinVar contains an entry for this variant (Variation ID: 640307). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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