ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1459C>T (p.Arg487Trp)

gnomAD frequency: 0.00013  dbSNP: rs200200279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482050 SCV000568940 likely benign not provided 2019-05-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19628475, 22873564, 21107856, 24385388, 30054184)
Invitae RCV000555199 SCV000658072 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2023-03-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CHRNA4 protein function. ClinVar contains an entry for this variant (Variation ID: 420221). This variant has not been reported in the literature in individuals affected with CHRNA4-related conditions. This variant is present in population databases (rs200200279, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 487 of the CHRNA4 protein (p.Arg487Trp).
CeGaT Center for Human Genetics Tuebingen RCV000482050 SCV001502402 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing

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