Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001974260 | SCV002266072 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with glycine at codon 1299 of the PRKDC protein (p.Glu1299Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1478594). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). |
| Ambry Genetics | RCV004042368 | SCV002620914 | uncertain significance | not specified | 2022-05-11 | criteria provided, single submitter | clinical testing | The p.E1299G variant (also known as c.3896A>G), located in coding exon 32 of the PRKDC gene, results from an A to G substitution at nucleotide position 3896. The glutamic acid at codon 1299 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |