Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002516352 | SCV002940007 | uncertain significance | Arrhythmogenic right ventricular dysplasia 13 | 2022-07-21 | 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. ClinVar contains an entry for this variant (Variation ID: 180313). This variant has not been reported in the literature in individuals affected with CTNNA3-related conditions. This variant is present in population databases (rs730880073, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Lys863Serfs*24) in the CTNNA3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acid(s) of the CTNNA3 protein. |
Blueprint Genetics | RCV000157162 | SCV000206885 | uncertain significance | Left ventricular noncompaction cardiomyopathy | 2014-07-10 | no assertion criteria provided | clinical testing |