ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.1161G>A (p.Glu387=)

gnomAD frequency: 0.00003  dbSNP: rs538720771
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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 RCV002720362 SCV002992867 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-05-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is present in population databases (rs538720771, gnomAD 0.01%). This sequence change affects codon 387 of the PRKDC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PRKDC protein. 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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