ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.460G>A (p.Ala154Thr)

gnomAD frequency: 0.00003  dbSNP: rs769929506
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227324 SCV001399677 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2022-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CHRNB2-related conditions. 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 CHRNB2 protein function. ClinVar contains an entry for this variant (Variation ID: 954801). This variant is present in population databases (rs769929506, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 154 of the CHRNB2 protein (p.Ala154Thr).
GeneDx RCV002293513 SCV002586556 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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