Submissions for variant NM_001040142.2(SCN2A):c.1971C>T (p.Val657=)

gnomAD frequency: 0.00001  dbSNP: rs149230197

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127946	SCV000171533	benign	not specified	2013-11-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001497570	SCV001702304	likely benign	Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11	2024-01-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000127946	SCV002066436	likely benign	not specified	2017-07-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415619	SCV002721290	likely benign	Inborn genetic diseases	2018-11-28	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.