Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687892 | SCV000815484 | uncertain significance | NIK deficiency | 2022-03-27 | 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. ClinVar contains an entry for this variant (Variation ID: 567727). This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. This variant is present in population databases (rs753550438, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 215 of the MAP3K14 protein (p.Glu215Lys). |