Submissions for variant NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)

dbSNP: rs779184118

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000188856	SCV000242486	likely pathogenic	not provided	2023-11-15	criteria provided, single submitter	clinical testing	Identified in a patient with early-onset epilepsy in the published literature (PMID: 36403551); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is within the extracellular loop between the S5 and S6 transmembrane segments of the first homologous domain; This variant is associated with the following publications: (PMID: 37334821, 36403551)
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV000677680	SCV000803823	likely pathogenic	Generalized epilepsy with febrile seizures plus, type 2	2017-10-02	criteria provided, single submitter	clinical testing
Mendelics	RCV000986909	SCV001136063	pathogenic	Severe myoclonic epilepsy in infancy	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000188856	SCV001152520	likely pathogenic	not provided	2017-07-01	criteria provided, single submitter	clinical testing