ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.553C>G (p.Leu185Val)

gnomAD frequency: 0.00001  dbSNP: rs1016301486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001927954 SCV002170191 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2021-09-21 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 185 of the PIK3R2 protein (p.Leu185Val). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with PIK3R2-related conditions. 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. 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.
Revvity Omics, Revvity RCV001927954 SCV003808380 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2021-11-30 criteria provided, single submitter clinical testing

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