Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000559063 | SCV000636802 | pathogenic | Perlman syndrome | 2018-06-02 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu267Valfs*10) in the DIS3L2 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DIS3L2-related disease. ClinVar contains an entry for this variant (Variation ID: 463129). Loss-of-function variants in DIS3L2 are known to be pathogenic (PMID: 22306653). For these reasons, this variant has been classified as Pathogenic. |