ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.8767T>C (p.Trp2923Arg)

dbSNP: rs1589724169
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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 RCV000810844 SCV000951081 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2018-11-24 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 2923 of the PRKDC protein (p.Trp2923Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRKDC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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