ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.641G>A (p.Gly214Asp)

dbSNP: rs2143821057
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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 RCV002020380 SCV002290884 uncertain significance NIK deficiency 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 214 of the MAP3K14 protein (p.Gly214Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. 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. 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: 1505142). 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).

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