Submissions for variant NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)

gnomAD frequency: 0.00036  dbSNP: rs74772771

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000727343	SCV000240456	benign	not provided	2019-12-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21703448, 28488083)
Invitae	RCV001079768	SCV000551796	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy	2024-01-21	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727343	SCV000707719	uncertain significance	not provided	2018-01-04	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000615228	SCV000743961	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy 4	2017-07-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727343	SCV000892830	uncertain significance	not provided	2019-05-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000615228	SCV001137599	benign	Autosomal dominant nocturnal frontal lobe epilepsy 4	2023-08-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000615228	SCV001327005	benign	Autosomal dominant nocturnal frontal lobe epilepsy 4	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics	RCV002390487	SCV002699237	likely benign	Inborn genetic diseases	2018-11-26	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000615228	SCV000734602	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy 4		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727343	SCV001971186	likely benign	not provided		no assertion criteria provided	clinical testing