ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys)

gnomAD frequency: 0.00003  dbSNP: rs746480833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623783 SCV000740746 likely pathogenic Inborn genetic diseases 2015-01-22 criteria provided, single submitter clinical testing
Invitae RCV001338071 SCV001531708 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 47 of the CHRNB2 protein (p.Arg47Cys). This variant is present in population databases (rs746480833, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CHRNB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 520582). 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 expected to disrupt CHRNB2 protein function with a positive predictive value of 80%. 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.

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