Submissions for variant NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)

dbSNP: rs45588436

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000516640	SCV000612737	benign	not specified	2024-10-02	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727277	SCV000707184	uncertain significance	not provided	2017-04-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314898	SCV000848456	likely benign	Inborn genetic diseases	2016-12-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082709	SCV001005580	benign	Autosomal dominant nocturnal frontal lobe epilepsy	2024-11-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000727277	SCV001906785	benign	not provided	2019-06-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942685	SCV004759797	likely benign	CHRNA4-related disorder	2021-04-16	no assertion criteria provided	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).