ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp)

dbSNP: rs1697272829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - Simons Searchlight RCV001265268 SCV001443385 likely pathogenic Complex neurodevelopmental disorder 2018-06-08 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-06-08 and interpreted as Likely Pathogenic. Variant was initially reported on 2018-05-16 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.
GenomeConnect - Brain Gene Registry RCV003313202 SCV004012827 not provided Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9; Complex neurodevelopmental disorder no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 05-16-2018 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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