ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.28G>C (p.Gly10Arg)

dbSNP: rs2143830849
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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 RCV002026368 SCV002301330 uncertain significance NIK deficiency 2022-12-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 10 of the MAP3K14 protein (p.Gly10Arg). This variant is not present in population databases (gnomAD no frequency). 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: 1513822). This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions.

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