Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001041638 | SCV001205262 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2022-10-04 | 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. ClinVar contains an entry for this variant (Variation ID: 839797). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is present in population databases (rs373627081, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2915 of the PRKDC protein (p.Arg2915Cys). |