ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.719G>T (p.Trp240Leu)

gnomAD frequency: 0.00002  dbSNP: rs781742842
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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 RCV002027946 SCV002317295 uncertain significance NIK deficiency 2022-02-11 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with leucine, which is neutral and non-polar, at codon 240 of the MAP3K14 protein (p.Trp240Leu). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. This variant is present in population databases (rs781742842, gnomAD 0.03%).

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