ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1640G>A (p.Arg547Gln)

gnomAD frequency: 0.00001  dbSNP: rs200781840
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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 RCV001991371 SCV002287135 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2021-08-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 547 of the PIK3R2 protein (p.Arg547Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs200781840, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with PIK3R2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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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