Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000798389 | SCV000938005 | pathogenic | not provided | 2023-10-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser2881Hisfs*41) 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 (rs771728311, 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: 644467). For these reasons, this variant has been classified as Pathogenic. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001814237 | SCV002061419 | likely pathogenic | Developmental and epileptic encephalopathy, 18 | 2021-06-27 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Ambry Genetics | RCV002370099 | SCV002684238 | pathogenic | Inborn genetic diseases | 2018-01-10 | criteria provided, single submitter | clinical testing | The c.8640delC pathogenic mutation, located in coding exon 61 of the SZT2 gene, results from a deletion of one nucleotide at nucleotide position 8640, causing a translational frameshift with a predicted alternate stop codon (p.S2881Hfs*41). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Gene |
RCV000798389 | SCV002756658 | likely pathogenic | not provided | 2022-11-18 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed with a second SZT2 variant on the opposite allele (in trans) in a patient with infantile spasms, developmental delay, and focal seizures; however this patient also had a variant in another gene associated with epilpsy (Rochtus et al., 2020); This variant is associated with the following publications: (PMID: 31957018) |
Institute of Human Genetics, |
RCV001814237 | SCV002765125 | pathogenic | Developmental and epileptic encephalopathy, 18 | 2022-12-08 | criteria provided, single submitter | clinical testing | This variant was identified together with NM_015284.4:c.4550G>A in the same patient._x000D_ Criteria applied: PVS1, PS4_MOD, PM2_SUP |
Genome- |
RCV001814237 | SCV004178039 | likely pathogenic | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |