ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.11947A>G (p.Ile3983Val)

gnomAD frequency: 0.00001  dbSNP: rs1430846940
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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 RCV001965015 SCV002208114 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-11-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. 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 is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3983 of the PRKDC protein (p.Ile3983Val).

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