Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000809068 | SCV000949207 | uncertain significance | NIK deficiency | 2022-06-04 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 223 of the MAP3K14 protein (p.Arg223Gln). 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. ClinVar contains an entry for this variant (Variation ID: 653318). This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. This variant is present in population databases (rs767596622, gnomAD 0.003%). |