ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.884C>T (p.Pro295Leu)

dbSNP: rs1055681030
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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 RCV001205994 SCV001377279 uncertain significance NIK deficiency 2021-07-22 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 replaces proline with leucine at codon 295 of the MAP3K14 protein (p.Pro295Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. 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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