Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039770 | SCV001203316 | uncertain significance | Charcot-Marie-Tooth disease, dominant intermediate F | 2019-11-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg214*) in the GNB4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs748747265, ExAC 0.006%). This variant has not been reported in the literature in individuals with GNB4-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GNB4 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. |