ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.2576A>G (p.Asn859Ser)

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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 RCV002806235 SCV003031720 uncertain significance NIK deficiency 2023-08-10 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1991306). This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. This variant is present in population databases (rs371527687, gnomAD 0.008%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 859 of the MAP3K14 protein (p.Asn859Ser).

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