ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu)

dbSNP: rs796053137
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189150 SCV000242782 pathogenic not provided 2018-06-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 23827426, 25262651, 29691040, 29186148, 29655203, 32090326)
GenomeConnect - Simons Searchlight RCV001265491 SCV001443635 likely pathogenic Complex neurodevelopmental disorder 2015-09-02 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2015-09-02 and interpreted as Likely Pathogenic. Variant was initially reported on 2012-03-31 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.
GenomeConnect - Brain Gene Registry RCV003325951 SCV004032178 not provided Benign familial neonatal-infantile seizures 1; Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; SCN2A-related generalized epilepsy with febrile seizures plus no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-31-2012 by Lab GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.
Channelopathy-Associated Epilepsy Research Center RCV001265491 SCV004232413 not provided Complex neurodevelopmental disorder no assertion provided literature only

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