ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.8180G>A (p.Arg2727Gln)

gnomAD frequency: 0.00006  dbSNP: rs766871497
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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 RCV002016687 SCV002298822 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-04-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 2727 of the PRKDC protein (p.Arg2727Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. 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. This variant has not been reported in the literature in individuals with PRKDC-related conditions. This variant is present in population databases (rs766871497, ExAC 0.01%).

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