Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001234874 | SCV001407534 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2021-11-30 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 961218). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is present in population databases (rs564617559, gnomAD 0.001%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 807 of the PRKDC protein (p.Asp807Glu). |
Ambry Genetics | RCV002447176 | SCV002732872 | uncertain significance | Inborn genetic diseases | 2022-02-24 | criteria provided, single submitter | clinical testing | The p.D807E variant (also known as c.2421T>G), located in coding exon 22 of the PRKDC gene, results from a T to G substitution at nucleotide position 2421. The aspartic acid at codon 807 is replaced by glutamic acid, 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. |