ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: rs767596622
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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 RCV000809068 SCV000949207 uncertain significance NIK deficiency 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 223 of the MAP3K14 protein (p.Arg223Gln). 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. ClinVar contains an entry for this variant (Variation ID: 653318). This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. This variant is present in population databases (rs767596622, gnomAD 0.003%).

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