Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001201935 | SCV001373030 | uncertain significance | NIK deficiency | 2020-07-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg223*) in the MAP3K14 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MAP3K14-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MAP3K14 cause disease. 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. |