ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.106C>G (p.Gln36Glu)

gnomAD frequency: 0.00001  dbSNP: rs751516263
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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 RCV002029802 SCV002115961 uncertain significance NIK deficiency 2021-09-14 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 36 of the MAP3K14 protein (p.Gln36Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs751516263, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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