ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.968A>G (p.His323Arg)

gnomAD frequency: 0.00001  dbSNP: rs201004255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695307 SCV000823797 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 323 of the CHRNB2 protein (p.His323Arg). This variant is present in population databases (rs201004255, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of CHRNB2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 573599). 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 with a negative 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.
CeGaT Center for Human Genetics Tuebingen RCV003311882 SCV004009877 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing CHRNB2: PP2, PP3

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