ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.158G>C (p.Ser53Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005026431 SCV005655205 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2024-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005026431 SCV005704386 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 53 of the PIK3R2 protein (p.Ser53Thr). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PIK3R2-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PIK3R2 protein function with a negative predictive value of 95%. 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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