ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.214G>A (p.Glu72Lys)

gnomAD frequency: 0.00003  dbSNP: rs757101873
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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 RCV001365317 SCV001561583 uncertain significance NIK deficiency 2022-11-08 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 create or strengthen a 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: 1056476). This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. This variant is present in population databases (rs757101873, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 72 of the MAP3K14 protein (p.Glu72Lys).

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