ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.320A>G (p.Gln107Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002957356 SCV003270910 uncertain significance NIK deficiency 2022-01-02 criteria provided, single submitter clinical testing This variant is present in population databases (rs760322653, gnomAD 0.02%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 107 of the MAP3K14 protein (p.Gln107Arg). This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. 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.
Ambry Genetics RCV004642076 SCV005137790 uncertain significance not specified 2024-05-20 criteria provided, single submitter clinical testing The c.320A>G (p.Q107R) alteration is located in exon 3 (coding exon 2) of the MAP3K14 gene. This alteration results from a A to G substitution at nucleotide position 320, causing the glutamine (Q) at amino acid position 107 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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