ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser)

gnomAD frequency: 0.00040  dbSNP: rs144185168
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000388259 SCV000343613 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380966 SCV000473201 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.
Invitae RCV001086367 SCV000818647 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000388259 SCV001945137 benign not provided 2021-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402002 SCV002708494 benign Inborn genetic diseases 2022-01-12 criteria provided, single submitter clinical testing This alteration is classified as 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.

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