Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001302131 | SCV001491325 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2020-09-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with PRKDC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 510 of the PRKDC protein (p.Ala510Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. 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 | RCV002402841 | SCV002705491 | uncertain significance | Inborn genetic diseases | 2022-06-03 | criteria provided, single submitter | clinical testing | The p.A510V variant (also known as c.1529C>T), located in coding exon 15 of the PRKDC gene, results from a C to T substitution at nucleotide position 1529. The alanine at codon 510 is replaced by valine, 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. |