ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.8173C>G (p.Leu2725Val)

gnomAD frequency: 0.00003  dbSNP: rs766994936
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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 RCV000795591 SCV000935059 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-04-16 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2725 of the PRKDC protein (p.Leu2725Val). This variant is present in population databases (rs766994936, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 642180). 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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