Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001071232 | SCV001236524 | uncertain significance | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 2022-09-12 | 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: 864121). This variant has not been reported in the literature in individuals affected with PIK3R2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 127 of the PIK3R2 protein (p.Leu127Pro). |
| Ambry Genetics | RCV002554621 | SCV003622567 | uncertain significance | Inborn genetic diseases | 2022-05-04 | criteria provided, single submitter | clinical testing | The c.380T>C (p.L127P) alteration is located in exon 3 (coding exon 2) of the PIK3R2 gene. This alteration results from a T to C substitution at nucleotide position 380, causing the leucine (L) at amino acid position 127 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |