Submissions for variant NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=)

gnomAD frequency: 0.00021  dbSNP: rs121912283

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124293	SCV000167720	benign	not specified	2013-05-14	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.
Eurofins Ntd Llc (ga)	RCV000726373	SCV000344137	uncertain significance	not provided	2016-07-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087085	SCV000563064	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy	2024-01-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726373	SCV001246633	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	CHRNA4: BP4, BP7
Ambry Genetics	RCV002399476	SCV002707930	likely benign	Inborn genetic diseases	2018-05-11	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.
Psychiatry Genetics Yale University	RCV000084611	SCV000116747	not provided	Tobacco use disorder		no assertion provided	not provided
PreventionGenetics, part of Exact Sciences	RCV003964952	SCV004784243	likely benign	CHRNA4-related disorder	2019-08-30	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).