Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001065322 | SCV001230278 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2023-05-19 | 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 PRKDC protein function. ClinVar contains an entry for this variant (Variation ID: 859256). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 513 of the PRKDC protein (p.Glu513Lys). |
| Ambry Genetics | RCV002402453 | SCV002705028 | uncertain significance | Inborn genetic diseases | 2021-11-23 | criteria provided, single submitter | clinical testing | The p.E513K variant (also known as c.1537G>A), located in coding exon 15 of the PRKDC gene, results from a G to A substitution at nucleotide position 1537. The glutamic acid at codon 513 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |