ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1522C>T (p.Arg508Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002698659 SCV003730243 uncertain significance Inborn genetic diseases 2022-08-26 criteria provided, single submitter clinical testing The c.1522C>T (p.R508C) alteration is located in exon 12 (coding exon 11) of the PIK3R2 gene. This alteration results from a C to T substitution at nucleotide position 1522, causing the arginine (R) at amino acid position 508 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003534980 SCV004268526 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-03-04 criteria provided, single submitter clinical testing 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 not expected to disrupt PIK3R2 protein function. ClinVar contains an entry for this variant (Variation ID: 2387831). This variant has not been reported in the literature in individuals affected with PIK3R2-related conditions. This variant is present in population databases (rs376215289, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 508 of the PIK3R2 protein (p.Arg508Cys).

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