ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.9981C>A (p.Asn3327Lys)

dbSNP: rs559743703
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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 RCV002952524 SCV003268457 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-12-24 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. 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 asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 3327 of the PRKDC protein (p.Asn3327Lys).

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