Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001350904 | SCV001545332 | uncertain significance | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2022-07-06 | 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: 1046351). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is present in population databases (rs771437391, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3076 of the PRKDC protein (p.Ala3076Thr). |