ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.11675C>T (p.Thr3892Ile)

gnomAD frequency: 0.00003  dbSNP: rs374822637
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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 RCV002036633 SCV002317676 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-12-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 3892 of the PRKDC protein (p.Thr3892Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs374822637, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. 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.

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