Submissions for variant NM_000744.7(CHRNA4):c.1360G>A (p.Gly454Ser)

gnomAD frequency: 0.00014  dbSNP: rs78306886

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000997798	SCV000240476	likely benign	not provided	2020-08-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22873564, 19628475)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464341	SCV000553240	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy	2024-11-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312735	SCV000847139	likely benign	Inborn genetic diseases	2018-07-10	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.
CeGaT Center for Human Genetics Tuebingen	RCV000997798	SCV001153512	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	CHRNA4: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000997798	SCV001471726	uncertain significance	not provided	2020-03-03	criteria provided, single submitter	clinical testing