ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.5467T>A (p.Ser1823Thr)

gnomAD frequency: 0.00002  dbSNP: rs1228013096
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064175 SCV001229057 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-02-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 858327). 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 serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1823 of the PRKDC protein (p.Ser1823Thr).

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