Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000701662 | SCV000830474 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2018-02-01 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PRKDC-related disease. This variant is present in population databases (rs765339827, ExAC 0.002%). This sequence change replaces leucine with serine at codon 934 of the PRKDC protein (p.Leu934Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. 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 | RCV004026566 | SCV003912879 | uncertain significance | not specified | 2023-03-05 | criteria provided, single submitter | clinical testing | The p.L934S variant (also known as c.2801T>C), located in coding exon 25 of the PRKDC gene, results from a T to C substitution at nucleotide position 2801. The leucine at codon 934 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |