ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.1821G>A (p.Lys607=)

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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 RCV003048991 SCV003342474 uncertain significance NIK deficiency 2022-09-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 607 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 also falls at the last nucleotide of exon 10, which is part of the consensus splice site for this exon. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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