ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.9788A>G (p.His3263Arg)

dbSNP: rs1197823539
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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 RCV001297680 SCV001486708 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2020-09-15 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 3263 of the PRKDC protein (p.His3263Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRKDC-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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