Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001299658 | SCV001488760 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2020-01-15 | 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: "Deleterious"; 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 not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 915 of the PRKDC protein (p.Thr915Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. |
| Ambry Genetics | RCV002437017 | SCV002747530 | uncertain significance | Inborn genetic diseases | 2021-10-19 | criteria provided, single submitter | clinical testing | The p.T915I variant (also known as c.2744C>T), located in coding exon 24 of the PRKDC gene, results from a C to T substitution at nucleotide position 2744. The threonine at codon 915 is replaced by isoleucine, 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. |