ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1616C>T (p.Ser539Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002400979 SCV002705338 likely benign Inborn genetic diseases 2019-01-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003097011 SCV003520470 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2023-03-08 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: 1776494). This variant has not been reported in the literature in individuals affected with CHRNA4-related conditions. This variant is present in population databases (rs375524982, gnomAD 0.03%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 539 of the CHRNA4 protein (p.Ser539Leu).
Revvity Omics, Revvity RCV003485781 SCV004235078 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1 2023-11-01 criteria provided, single submitter clinical testing

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