Submissions for variant NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser)

gnomAD frequency: 0.00070  dbSNP: rs111969225

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724231	SCV000230957	uncertain significance	not provided	2014-12-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000724231	SCV000240479	benign	not provided	2020-09-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21683344)
Invitae	RCV001084657	SCV000553230	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314648	SCV000847945	likely benign	Inborn genetic diseases	2017-10-12	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	RCV000724231	SCV002544641	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	CHRNA4: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003955069	SCV004775546	likely benign	CHRNA4-related condition	2021-04-13	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).