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 variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. 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 is present in population databases (rs767596622, gnomAD 0.003%). 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).

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