ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.346G>A (p.Glu116Lys)

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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 RCV002913663 SCV003254448 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2022-05-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PIK3R2-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PIK3R2 protein function. This variant is present in population databases (rs553673157, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 116 of the PIK3R2 protein (p.Glu116Lys).

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