ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.8579A>G (p.Asp2860Gly)

gnomAD frequency: 0.00001  dbSNP: rs899644486
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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 RCV001317010 SCV001507652 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2020-03-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 2860 of the PRKDC protein (p.Asp2860Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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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