ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.8882C>A (p.Ala2961Asp)

gnomAD frequency: 0.00001  dbSNP: rs376717552
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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 RCV001059195 SCV001223810 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-12-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 854200). 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 variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is present in population databases (rs376717552, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 2961 of the PRKDC protein (p.Ala2961Asp).

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