Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489763 | SCV000576593 | pathogenic | not provided | 2017-04-26 | criteria provided, single submitter | clinical testing | The R1235X pathogenic variant in the SCN2A 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 R1235X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R1235X as a pathogenic variant. |
Genetics Laboratory, |
RCV002287413 | SCV002577686 | pathogenic | Developmental and epileptic encephalopathy, 11 | 2022-10-04 | criteria provided, single submitter | clinical testing | PVS1;PS4;PM2_supporting;PM6 |
Institute Of Human Genetics Munich, |
RCV002287413 | SCV002764871 | pathogenic | Developmental and epileptic encephalopathy, 11 | 2020-01-07 | criteria provided, single submitter | clinical testing | |
Laboratoire de Génétique Moléculaire, |
RCV002287413 | SCV003836689 | pathogenic | Developmental and epileptic encephalopathy, 11 | 2020-05-29 | criteria provided, single submitter | clinical testing | |
Institute of Immunology and Genetics Kaiserslautern | RCV002287413 | SCV004363626 | pathogenic | Developmental and epileptic encephalopathy, 11 | 2024-02-02 | criteria provided, single submitter | clinical testing | ACMG Criteria: PVS1, PM2, PP3, PP5; Variant was found in heterozygous state |
Diagnostic Laboratory, |
RCV000489763 | SCV001978467 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000489763 | SCV001979455 | pathogenic | not provided | no assertion criteria provided | clinical testing |