ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.153G>A (p.Leu51=)

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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 RCV002594260 SCV002954989 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-05-30 criteria provided, single submitter clinical testing 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. This sequence change affects codon 51 of the PRKDC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PRKDC protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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