Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033891 | SCV001197198 | uncertain significance | Arrhythmogenic right ventricular dysplasia 13 | 2019-06-06 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 8-10 of the CTNNA3 gene. This is predicted to lead to an in-frame deletion, preserving the integrity of the reading frame. In-frame deletions encompassing exons 8-9 and of exon 10 have been reported in the literature in individuals affected with autism, but also in unaffected family members and healthy control individuals (PMID: 25050139). In summary, this is a novel in-frame deletion with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. |