ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1293C>T (p.Ala431=)

gnomAD frequency: 0.18524  dbSNP: rs33978919
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116735 SCV000150709 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116735 SCV000301931 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340615 SCV000403866 benign Congenital myasthenic syndrome 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.
GeneDx RCV000116735 SCV000519234 benign not specified 2016-04-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001510808 SCV001717941 benign Congenital myasthenic syndrome 4A 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510808 SCV001761203 benign Congenital myasthenic syndrome 4A 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542822 SCV001761204 benign Congenital myasthenic syndrome 4B 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542823 SCV001761205 benign Congenital myasthenic syndrome 4C 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709255 SCV005254714 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000340615 SCV001453124 benign Congenital myasthenic syndrome 2020-09-16 no assertion criteria provided clinical testing

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