ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.2270A>G (p.Lys757Arg)

gnomAD frequency: 0.00001  dbSNP: rs747089655
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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 RCV001051606 SCV001215772 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-07-06 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces lysine with arginine at codon 757 of the PRKDC protein (p.Lys757Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 847958). 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.

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