Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000476390 | SCV000563980 | uncertain significance | Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH | 2016-09-02 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 1-2 of the BAG3 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the BAG3 gene. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BAG3-related disease. In summary, this is a novel sub-genic duplication that includes the first coding exon of the BAG3 gene. The impact of this duplication on protein function is not known at this time. Therefore, it has been classified as a Variant of Uncertain Significance. |