Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209089 | SCV001380510 | uncertain significance | Joubert syndrome 20; Meckel syndrome, type 11 | 2020-03-10 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with TMEM231-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 334 of the TMEM231 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TMEM231 protein. 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. 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. |