ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.8783+17del

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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 RCV002824553 SCV003208815 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-09-10 criteria provided, single submitter clinical testing This sequence change falls in intron 63 of the PRKDC gene. It does not directly change the encoded amino acid sequence of the PRKDC protein. This variant is not present in population databases (gnomAD no frequency). 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. 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.

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