Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001360859 | SCV001556812 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2020-06-16 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with tryptophan at codon 820 of the PRKDC protein (p.Arg820Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant has not been reported in the literature in individuals with PRKDC-related conditions. 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 | RCV002456549 | SCV002738184 | uncertain significance | Inborn genetic diseases | 2021-08-11 | criteria provided, single submitter | clinical testing | The p.R820W variant (also known as c.2458C>T), located in coding exon 22 of the PRKDC gene, results from a C to T substitution at nucleotide position 2458. The arginine at codon 820 is replaced by tryptophan, 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. |