ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)

dbSNP: rs74315291
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091721 SCV001247914 pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
Invitae RCV001216785 SCV001388597 pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 2023-06-27 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects CHRNB2 function (PMID: 11104662, 18456869, 22036597). 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: 17496). This missense change has been observed in individuals with autosomal dominant nocturnal frontal lobe epilepsy (PMID: 11104662, 17900292). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 287 of the CHRNB2 protein (p.Val287Met). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000019048 SCV002505576 pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 3 2022-03-30 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PS1, PM5_STR, PS3_MOD, PS4_MOD, PP1_MOD, PM2_SUP, PP3
Institute of Human Genetics, University of Leipzig Medical Center RCV003493411 SCV004242495 pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 1 2024-01-30 criteria provided, single submitter clinical testing Criteria applied: PS4,PM5_STR,PS3_MOD,PP1_MOD,PM2_SUP,PP3
OMIM RCV000019048 SCV000039335 pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 3 2001-01-01 no assertion criteria provided literature only

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