Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001200332 | SCV001371260 | likely pathogenic | not provided | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Department of Clinical Genetics, |
RCV002226758 | SCV002505723 | likely pathogenic | Developmental and epileptic encephalopathy, 18 | 2021-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001200332 | SCV003514989 | pathogenic | not provided | 2022-12-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 932499). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This variant is present in population databases (rs764896693, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg1912*) in the SZT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SZT2 are known to be pathogenic (PMID: 23932106, 27248490, 28556953). |
Genome- |
RCV002226758 | SCV004177836 | likely pathogenic | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |