ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.8644G>A (p.Ala2882Thr)

dbSNP: rs2154499225
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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 RCV001863299 SCV002117210 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2882 of the PRKDC protein (p.Ala2882Thr). ClinVar contains an entry for this variant (Variation ID: 1353242). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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