Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002771376 | SCV003032374 | pathogenic | not provided | 2023-12-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2957*) 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). This variant is present in population databases (rs752035788, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1990535). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV002771376 | SCV004123703 | pathogenic | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | SZT2: PVS1, PM2 |
Genome- |
RCV003458154 | SCV004178053 | pathogenic | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |