Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001946831 | SCV002238146 | pathogenic | not provided | 2022-07-19 | 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: 1456246). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2522*) 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). |
| Victorian Clinical Genetics Services, |
RCV002272539 | SCV002557980 | pathogenic | Developmental and epileptic encephalopathy, 18 | 2020-05-21 | criteria provided, single submitter | clinical testing | A heterozygous nonsense variant was identified, NM_015284.3(SZT2):c.7564C>T in exon 54 of 71 of the SZT2 gene. This nonsense variant is predicted to create a change of a glutamine to a stop at amino acid position 2522 of the protein NP_056099.3(SZT2):p.(Gln2522*), resulting in the loss of normal protein function through nonsense-mediated decay (NMD). The variant is not present in the gnomAD population database. The variant has not been previously reported in clinical cases, however, other variants predicted to cause NMD have been reported as pathogenic in individuals with autosomal recessive early infantile epileptic encephalopathy (ClinVar). Based on information available at the time of curation, this variant has been classified as PATHOGENIC. |
| Genome- |
RCV002272539 | SCV004181473 | pathogenic | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |