ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.11944A>G (p.Ser3982Gly)

gnomAD frequency: 0.00011  dbSNP: rs374625875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814714 SCV000955136 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-10-07 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 3982 of the PRKDC protein (p.Ser3982Gly). This variant is present in population databases (rs374625875, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 657989). 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693357 SCV005195914 uncertain significance not provided criteria provided, single submitter not provided

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