Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001056348 | SCV001220789 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2019-04-11 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 proline with serine at codon 1810 of the PRKDC protein (p.Pro1810Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. |
| Ambry Genetics | RCV004031782 | SCV002649376 | uncertain significance | not specified | 2021-10-05 | criteria provided, single submitter | clinical testing | The p.P1810S variant (also known as c.5428C>T), located in coding exon 41 of the PRKDC gene, results from a C to T substitution at nucleotide position 5428. The proline at codon 1810 is replaced by serine, 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. |