Submissions for variant NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys)

gnomAD frequency: 0.00039  dbSNP: rs141721605

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116709	SCV000150678	uncertain significance	not provided	2014-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000116709	SCV000240449	benign	not provided	2019-07-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000396382	SCV000473184	benign	Autosomal dominant nocturnal frontal lobe epilepsy 4	2018-01-13	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.
Eurofins Ntd Llc (ga)	RCV000116709	SCV000701446	uncertain significance	not provided	2016-10-14	criteria provided, single submitter	clinical testing
Invitae	RCV001079224	SCV001001641	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy	2023-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362745	SCV002665145	likely benign	Inborn genetic diseases	2022-05-18	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.