ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg)

dbSNP: rs1064794005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478692 SCV000567565 pathogenic not provided 2015-07-30 criteria provided, single submitter clinical testing The S1758R substitution in the SCN2A gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. The S1758R variant was not observed in approximately6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common variant in these populations. The S1758R variant is a semi-conservativeamino acid substitution at a position that is conserved across species. The S1758R substitution is located inthe transmembrane segment S6 of the fourth homologous domain of the SCN2A protein. In silico analysispredicts this variant is probably damaging to the protein structure/function. We interpret S1758R as apathogenic variant.
GenomeConnect - Simons Searchlight RCV001265492 SCV001443636 pathogenic Complex neurodevelopmental disorder 2016-01-15 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-01-15 and interpreted as Pathogenic. Variant was initially reported on 2015-08-06 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.
GenomeConnect - Brain Gene Registry RCV003313080 SCV004012833 not provided Seizures, benign familial infantile, 3; SCN2A-related generalized epilepsy with febrile seizures plus no assertion provided phenotyping only Variant interpreted as other - disease-causing mutation on report and reported on 08-06-2015 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/.

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