Submissions for variant NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)

gnomAD frequency: 0.00032  dbSNP: rs184769423

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000189212	SCV000152614	likely benign	not specified	2016-05-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000733650	SCV000242844	benign	not provided	2018-10-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30564305)
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000678841	SCV000805030	uncertain significance	Pyridoxine-dependent epilepsy	2017-04-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080949	SCV000814993	likely benign	Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316316	SCV000850747	likely benign	Inborn genetic diseases	2018-03-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga)	RCV000733650	SCV000861740	uncertain significance	not provided	2018-06-14	criteria provided, single submitter	clinical testing
GenomeConnect - Simons Searchlight	RCV001265406	SCV001443532	uncertain significance	Complex neurodevelopmental disorder	2019-01-29	no assertion criteria provided	provider interpretation	Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-01-29 and interpreted as Variant of Uncertain significance. Variant was initially reported on 2017-08-15 by GTR ID of laboratory name 25969. The reporting laboratory might also submit to ClinVar.
Department of Neurology, Children’s Hospital of Chongqing Medical University	RCV003155918	SCV002577336	uncertain significance	Febrile seizure (within the age range of 3 months to 6 years)		no assertion criteria provided	research