Submissions for variant NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=)

gnomAD frequency: 0.00050  dbSNP: rs199698414

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000315288	SCV000417456	likely benign	Seizures, benign familial infantile, 3	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000540898	SCV000514521	likely benign	not provided	2021-06-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000419672	SCV000596962	likely benign	not specified	2016-10-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083298	SCV000639636	likely benign	Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11	2024-12-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317842	SCV000851758	likely benign	Inborn genetic diseases	2017-05-31	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.
CeGaT Center for Human Genetics Tuebingen	RCV000540898	SCV001152488	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SCN2A: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000540898	SCV005256424	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003985322	SCV004759159	likely benign	SCN2A-related disorder	2023-10-03	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).