ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.1540C>T (p.Arg514Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795324 SCV000934779 uncertain significance Immunodeficiency 40 2018-08-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 514 of the DOCK2 protein (p.Arg514Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DOCK2-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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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