Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000884330 | SCV001027699 | likely benign | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354715 | SCV002621730 | uncertain significance | Inborn genetic diseases | 2021-12-30 | criteria provided, single submitter | clinical testing | The p.K1311E variant (also known as c.3931A>G), located in coding exon 32 of the PRKDC gene, results from an A to G substitution at nucleotide position 3931. The lysine at codon 1311 is replaced by glutamic acid, 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. |