Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692221 | SCV000820033 | uncertain significance | Charcot-Marie-Tooth disease dominant intermediate F | 2019-01-26 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with GNB4-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 238 of the GNB4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GNB4 protein. |