Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001242984 | SCV001416112 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2019-09-30 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PRKDC-related conditions. This variant is present in population databases (rs368586692, ExAC 0.001%). This sequence change replaces isoleucine with valine at codon 1188 of the PRKDC protein (p.Ile1188Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. |
| Ambry Genetics | RCV002451592 | SCV002616646 | uncertain significance | Inborn genetic diseases | 2021-12-01 | criteria provided, single submitter | clinical testing | The p.I1188V variant (also known as c.3562A>G), located in coding exon 30 of the PRKDC gene, results from an A to G substitution at nucleotide position 3562. The isoleucine at codon 1188 is replaced by valine, an amino acid with highly 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. |