Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033054 | SCV001196361 | uncertain significance | Arrhythmogenic right ventricular dysplasia 13 | 2020-01-07 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 8-11 of the CTNNA3 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CTNNA3-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CTNNA3 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. |