Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001221757 | SCV001393819 | uncertain significance | Charcot-Marie-Tooth disease dominant intermediate F | 2019-08-09 | 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GNB4 cause disease. This variant has been observed in an individual affected with sensory and/or motor neuropathy (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 4 of the GNB4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |