ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)

dbSNP: rs387906683
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000022766 SCV000680362 pathogenic Developmental and epileptic encephalopathy, 11 2017-12-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713071 SCV000843639 pathogenic not provided 2017-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000713071 SCV002007625 pathogenic not provided 2022-12-07 criteria provided, single submitter clinical testing Published patch clamp studies demonstrate the variant results in absent channel current, demonstrating loss of function (Kamiya et al., 2004); Nonsense 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); This variant is associated with the following publications: (PMID: 27535533, 31785789, 33004838, 15028761, 28135719, 28191890, 19786696, 30175250, 31558572, 29635106, 32090326, 30813884, 33841294, 33851778, 34894057, 28600779)
Labcorp Genetics (formerly Invitae), Labcorp RCV003764629 SCV004569692 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-08-29 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: 29885). This premature translational stop signal has been observed in individual(s) with SCN2A-related conditions (PMID: 15028761, 33851778, 34894057). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg102*) in the SCN2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN2A are known to be pathogenic (PMID: 28379373).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003987329 SCV004805044 pathogenic Episodic ataxia, type 9 2024-03-17 criteria provided, single submitter research
OMIM RCV000022766 SCV000044055 pathogenic Developmental and epileptic encephalopathy, 11 2004-03-17 no assertion criteria provided literature only
GenomeConnect - Simons Searchlight RCV001265266 SCV001443382 pathogenic Complex neurodevelopmental disorder 2018-04-20 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-04-20 and interpreted as Pathogenic. Variant was initially reported on 2017-05-23 by GTR ID of laboratory name Klinikum rechts der Isar Technische Universitat Munchen . The reporting laboratory might also submit to ClinVar.
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV000022766 SCV002583323 pathogenic Developmental and epileptic encephalopathy, 11 2021-11-02 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.