Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001237445 | SCV001410205 | pathogenic | Perlman syndrome | 2023-01-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 963423). This premature translational stop signal has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 31350202). This variant is present in population databases (rs773260717, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg724*) in the DIS3L2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DIS3L2 are known to be pathogenic (PMID: 22306653, 28328139). |
Baylor Genetics | RCV001237445 | SCV004193932 | likely pathogenic | Perlman syndrome | 2023-10-19 | criteria provided, single submitter | clinical testing |