Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000791464 | SCV000930715 | uncertain significance | Arrhythmogenic right ventricular dysplasia 13 | 2023-01-11 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CTNNA3-related conditions. This variant is present in population databases (rs369024617, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg325*) in the CTNNA3 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CTNNA3 cause disease. ClinVar contains an entry for this variant (Variation ID: 638811). 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. |