ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.257-2A>G

dbSNP: rs2143827729
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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 RCV001360021 SCV001555914 uncertain significance NIK deficiency 2020-08-11 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals with MAP3K14-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 2 of the MAP3K14 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MAP3K14 cause disease. 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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