ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.609A>G (p.Pro203=)

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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 RCV003112729 SCV003789865 uncertain significance NIK deficiency 2022-05-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. This sequence change affects codon 203 of the MAP3K14 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MAP3K14 protein. This variant is present in population databases (rs757918009, gnomAD 0.003%). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing 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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