Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000461056 | SCV000563998 | uncertain significance | Perlman syndrome | 2016-12-20 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exon 9 of the DIS3L2 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. A duplication of exon 9 has not been reported in the literature in individuals affected with a DIS3L2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated exon is currently unknown. In summary, this is a partial gene duplication that preserves the reading frame of the protein and has not been reported in affected individuals. In the absence of additional genetic and functional data, it has been classified as a Variant of Uncertain Significance. |