ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.8671C>T (p.Arg2891Cys)

dbSNP: rs565638844
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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 RCV001914059 SCV002188958 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-10-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2891 of the PRKDC protein (p.Arg2891Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs565638844, ExAC 0.004%). 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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