Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001237354 | SCV001410111 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2022-08-31 | 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. ClinVar contains an entry for this variant (Variation ID: 963342). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is present in population databases (rs371388640, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 888 of the PRKDC protein (p.Arg888Gly). |
| Ambry Genetics | RCV002436929 | SCV002744823 | uncertain significance | Inborn genetic diseases | 2021-09-15 | criteria provided, single submitter | clinical testing | The p.R888G variant (also known as c.2662A>G), located in coding exon 24 of the PRKDC gene, results from an A to G substitution at nucleotide position 2662. The arginine at codon 888 is replaced by glycine, an amino acid with dissimilar 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. |