Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000363038 | SCV000330286 | pathogenic | not provided | 2016-03-04 | criteria provided, single submitter | clinical testing | The R1409X pathogenic variant in the SZT2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1409X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R1409X as a pathogenic variant. |
| Invitae | RCV000363038 | SCV001374715 | pathogenic | not provided | 2019-10-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1409*) in the SZT2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SZT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 280377). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in SZT2 are known to be pathogenic (PMID: 23932106, 27248490, 28556953). For these reasons, this variant has been classified as Pathogenic. |
| Genome- |
RCV003457670 | SCV004178884 | pathogenic | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |