ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.10274G>T (p.Arg3425Leu)

gnomAD frequency: 0.00010  dbSNP: rs377205091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001314269 SCV001504796 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-05-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 3425 of the PRKDC protein (p.Arg3425Leu). This variant is present in population databases (rs377205091, gnomAD 0.008%). 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: 1015416). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
PreventionGenetics, part of Exact Sciences RCV003399090 SCV004119552 uncertain significance PRKDC-related condition 2023-02-13 criteria provided, single submitter clinical testing The PRKDC c.10274G>T variant is predicted to result in the amino acid substitution p.Arg3425Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0083% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-48711794-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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