ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.668G>A (p.Arg223Gln) (rs767596622)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809068 SCV000949207 uncertain significance NIK deficiency 2018-08-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 223 of the MAP3K14 protein (p.Arg223Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs767596622, ExAC 0.005%). This variant has not been reported in the literature in individuals with MAP3K14-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: "Benign"; 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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