ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.11366G>A (p.Arg3789Lys)

dbSNP: rs1002822430
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327063 SCV001518123 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2020-06-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 3789 of the PRKDC protein (p.Arg3789Lys). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and lysine. This variant has not been reported in the literature in individuals with PRKDC-related conditions. 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.

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