ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.402G>A (p.Ala134=)

gnomAD frequency: 0.00008  dbSNP: rs201488442
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178802 SCV000167709 benign not specified 2013-07-09 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.
Eurofins Ntd Llc (ga) RCV000178802 SCV000230959 benign not specified 2015-03-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711165 SCV000841495 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312545 SCV000846368 likely benign Inborn genetic diseases 2016-07-26 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.
Invitae RCV001088149 SCV001003975 benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-30 criteria provided, single submitter clinical testing

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