Submissions for variant NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)

gnomAD frequency: 0.00262  dbSNP: rs45569837

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079312	SCV000111182	benign	not specified	2013-08-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000079312	SCV000167717	benign	not specified	2013-03-01	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.
Invitae	RCV000475854	SCV000563071	benign	Autosomal dominant nocturnal frontal lobe epilepsy	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313752	SCV000847470	likely benign	Inborn genetic diseases	2016-04-29	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.
Athena Diagnostics Inc	RCV000079312	SCV001475774	benign	not specified	2019-10-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498395	SCV002807302	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to	2021-10-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003311679	SCV004011348	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	CHRNA4: BP4, BP7