ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter)

dbSNP: rs1085307500
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 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, Klinikum Rechts Der Isar, Tu München RCV002287413 SCV002764871 pathogenic Developmental and epileptic encephalopathy, 11 2020-01-07 criteria provided, single submitter clinical testing
Laboratoire de Génétique Moléculaire, CHU Bordeaux 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, Department of Genetics, University Medical Center Groningen RCV000489763 SCV001978467 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000489763 SCV001979455 pathogenic not provided no assertion criteria provided clinical testing

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