Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001951914 | SCV002189201 | uncertain significance | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 2021-05-03 | 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 expected to disrupt PIK3R2 protein function. This variant has not been reported in the literature in individuals with PIK3R2-related conditions. 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 sequence change replaces glycine with serine at codon 28 of the PIK3R2 protein (p.Gly28Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. |
| Ambry Genetics | RCV002560391 | SCV003617875 | uncertain significance | Inborn genetic diseases | 2022-05-01 | criteria provided, single submitter | clinical testing | The c.82G>A (p.G28S) alteration is located in exon 2 (coding exon 1) of the PIK3R2 gene. This alteration results from a G to A substitution at nucleotide position 82, causing the glycine (G) at amino acid position 28 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |