Submissions for variant NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=)

gnomAD frequency: 0.00073  dbSNP: rs149579028

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127885	SCV000171470	benign	not specified	2013-07-19	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)	RCV000127885	SCV000331236	likely benign	not specified	2016-06-04	criteria provided, single submitter	clinical testing
Invitae	RCV000532790	SCV000633854	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316403	SCV000851551	likely benign	Inborn genetic diseases	2017-01-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV003430697	SCV004147178	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	SCN1A: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003925266	SCV004742939	likely benign	SCN1A-related condition	2019-10-28	criteria provided, single submitter	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).