ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=)

gnomAD frequency: 0.00021  dbSNP: rs121912283
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124293 SCV000167720 benign not specified 2013-05-14 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) RCV000726373 SCV000344137 uncertain significance not provided 2016-07-22 criteria provided, single submitter clinical testing
Invitae RCV001087085 SCV000563064 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726373 SCV001246633 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing CHRNA4: BP4, BP7
Ambry Genetics RCV002399476 SCV002707930 likely benign Inborn genetic diseases 2018-05-11 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.
PreventionGenetics, part of Exact Sciences RCV003964952 SCV004784243 likely benign CHRNA4-related condition 2019-08-30 criteria provided, single submitter 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).
Psychiatry Genetics Yale University RCV000084611 SCV000116747 not provided Tobacco use disorder no assertion provided not provided

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