Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474161 | SCV000563997 | pathogenic | Perlman syndrome | 2016-12-16 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 7 of the DIS3L2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in DIS3L2 are known to be pathogenic (PMID: 22306653). For these reasons, this variant has been classified as Pathogenic. |