Submissions for variant NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)

gnomAD frequency: 0.00084  dbSNP: rs79137415

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000179341	SCV000192827	benign	not specified	2016-09-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000179341	SCV000231575	likely benign	not specified	2014-10-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000179341	SCV000240553	benign	not specified	2017-03-08	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	RCV001084374	SCV000285620	benign	Autosomal dominant nocturnal frontal lobe epilepsy	2025-01-30	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513684	SCV000610278	likely benign	not provided	2017-08-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312637	SCV000846924	benign	Inborn genetic diseases	2016-06-13	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001258263	SCV001435183	benign	Autosomal dominant nocturnal frontal lobe epilepsy 3		criteria provided, single submitter	research	The heterozygous p.Phe478Leu variant in CHRNB2 has been identified in at least 1 individual with unexplained epilepsy (PMID: 21703448), but has also been identified in >3% of Latino chromosomes and 11 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal dominant idiopathic epilepsy.
Fulgent Genetics, Fulgent Genetics	RCV001258263	SCV002808127	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy 3	2022-01-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952700	SCV004781531	benign	CHRNB2-related disorder	2019-04-29	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).