ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) (rs74315291)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik 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 2019-06-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 287 of the CHRNB2 protein (p.Val287Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with autosomal dominant nocturnal frontal lobe epilepsy in families (PMID: 11104662, 17900292). ClinVar contains an entry for this variant (Variation ID: 17496). This variant has been reported to affect CHRNB2 protein function (PMID: 18456869, 22036597, 11104662). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019048 SCV000039335 pathogenic Epilepsy, nocturnal frontal lobe, type 3 2001-01-01 no assertion criteria provided literature only
GeneReviews RCV000019048 SCV000055721 pathologic Epilepsy, nocturnal frontal lobe, type 3 2012-09-20 no assertion criteria provided curation Converted during submission to Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.