Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000651283 | SCV000773134 | uncertain significance | Immunodeficiency 14 | 2023-09-29 | 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 PIK3CD protein function. ClinVar contains an entry for this variant (Variation ID: 541083). This variant has not been reported in the literature in individuals affected with PIK3CD-related conditions. This variant is present in population databases (rs755934302, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 738 of the PIK3CD protein (p.Ser738Arg). |
| Ambry Genetics | RCV003258911 | SCV003970130 | uncertain significance | Inborn genetic diseases | 2023-04-27 | criteria provided, single submitter | clinical testing | The c.2214C>A (p.S738R) alteration is located in exon 17 (coding exon 15) of the PIK3CD gene. This alteration results from a C to A substitution at nucleotide position 2214, causing the serine (S) at amino acid position 738 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |