ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.383A>G (p.Lys128Arg)

dbSNP: rs2044275499
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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 RCV001297864 SCV001486902 uncertain significance NIK deficiency 2020-02-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 with MAP3K14-related conditions. This sequence change replaces lysine with arginine at codon 128 of the MAP3K14 protein (p.Lys128Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine.

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