ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.1423A>G (p.Ile475Val)

dbSNP: rs202135710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038842 SCV001202341 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2023-08-30 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 CHRNB2 protein function. ClinVar contains an entry for this variant (Variation ID: 837494). This variant has not been reported in the literature in individuals affected with CHRNB2-related conditions. This variant is present in population databases (rs202135710, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 475 of the CHRNB2 protein (p.Ile475Val).
GeneDx RCV003314661 SCV004014159 uncertain significance not provided 2023-06-20 criteria provided, single submitter clinical testing Reported previously as a paternally inherited variant in two siblings with focal onset seizures who also harbored other variants; father was unaffected (Xu et al., 2023); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 37033539)

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