ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.6823C>G (p.Gln2275Glu)

dbSNP: rs765893792
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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 RCV002591821 SCV003494731 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-08-22 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. 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 affected with PRKDC-related conditions. This variant is present in population databases (rs765893792, gnomAD 0.002%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 2275 of the PRKDC protein (p.Gln2275Glu).

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