Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001893540 | SCV002177310 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with glutamic acid at codon 1231 of the PRKDC protein (p.Gln1231Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1398406). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Ambry Genetics | RCV004041659 | SCV002621703 | uncertain significance | not specified | 2021-08-21 | criteria provided, single submitter | clinical testing | The p.Q1231E variant (also known as c.3691C>G), located in coding exon 31 of the PRKDC gene, results from a C to G substitution at nucleotide position 3691. The glutamine at codon 1231 is replaced by glutamic acid, an amino acid with highly 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. |