ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.7750T>C (p.Cys2584Arg) (rs746648336)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560215 SCV000655396 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2018-11-02 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 2584 of the PRKDC protein (p.Cys2584Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs746648336, ExAC 0.007%). This variant has not been reported in the literature in individuals with PRKDC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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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