ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.6371C>T (p.Ser2124Phe)

dbSNP: rs2551869990
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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 RCV002856131 SCV003213135 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-06-28 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2124 of the PRKDC protein (p.Ser2124Phe). 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.

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