Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031342 | SCV001194648 | pathogenic | Perlman syndrome | 2022-08-16 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 7-8 of the DIS3L2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in DIS3L2 are known to be pathogenic (PMID: 22306653, 28328139). This variant has not been reported in the literature in individuals affected with DIS3L2-related conditions. For these reasons, this variant has been classified as Pathogenic. |