Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001337728 | SCV001531340 | uncertain significance | Atrial standstill 1; Atrial fibrillation, familial, 11 | 2020-08-19 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with GJA5-related conditions. This sequence change results in a premature translational stop signal in the GJA5 gene (p.Tyr175*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 184 amino acids of the GJA5 protein. This variant is not present in population databases (ExAC no frequency). 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. |