ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.1833G>T (p.Glu611Asp)

dbSNP: rs2143782753
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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 RCV002051402 SCV002107949 uncertain significance NIK deficiency 2021-05-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with aspartic acid at codon 611 of the MAP3K14 protein (p.Glu611Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.

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