ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.1561G>C (p.Val521Leu)

gnomAD frequency: 0.00019  dbSNP: rs189887419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004059135 SCV002708725 uncertain significance not specified 2022-10-30 criteria provided, single submitter clinical testing The p.V521L variant (also known as c.1561G>C), located in coding exon 15 of the PRKDC gene, results from a G to C substitution at nucleotide position 1561. The valine at codon 521 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096938 SCV003504403 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-12-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 521 of the PRKDC protein (p.Val521Leu). This variant is present in population databases (rs189887419, gnomAD 0.07%). 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.

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