Submissions for variant NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)

gnomAD frequency: 0.00014  dbSNP: rs116478064

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000441457	SCV000514483	benign	not specified	2015-08-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000734486	SCV000862633	uncertain significance	not provided	2018-08-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001401833	SCV001603667	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2022-10-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356528	SCV002651979	likely benign	Inborn genetic diseases	2017-07-12	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000441457	SCV003800872	likely benign	not specified	2023-01-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000734486	SCV004147192	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	SCN1A: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004539779	SCV004785450	likely benign	SCN1A-related disorder	2019-08-13	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).