ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.2485C>T (p.His829Tyr)

gnomAD frequency: 0.00001  dbSNP: rs369646866
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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 RCV001233892 SCV001406507 uncertain significance NIK deficiency 2021-10-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available"). 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. This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 829 of the MAP3K14 protein (p.His829Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine.

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