ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn)

gnomAD frequency: 0.00001  dbSNP: rs1187024375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701217 SCV000830008 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2022-06-21 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: 578261). This variant has not been reported in the literature in individuals affected with CHRNB2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 440 of the CHRNB2 protein (p.Ser440Asn).
Institute of Human Genetics, University of Leipzig Medical Center RCV001724142 SCV001950100 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 3 2021-07-14 criteria provided, single submitter clinical testing

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