ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)

gnomAD frequency: 0.00066  dbSNP: rs56142348
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186611 SCV000167713 benign not specified 2013-09-27 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) RCV000724570 SCV000230960 uncertain significance not provided 2015-02-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000186611 SCV000612735 benign not specified 2017-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080268 SCV000658065 benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316348 SCV000851347 likely benign Inborn genetic diseases 2016-11-16 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.
PreventionGenetics, part of Exact Sciences RCV003952645 SCV004772389 likely benign CHRNA4-related disorder 2019-04-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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