ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.260G>A (p.Arg87Gln) (rs71537801)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685235 SCV000812708 uncertain significance Atrial fibrillation, familial, 7 2020-10-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 87 of the KCNA5 protein (p.Arg87Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs71537801, ExAC 0.1%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in an individual affected with atrial fibrillation (PMID: 18209767). Experimental studies have shown that this missense change reduces KCNA5 channel inactivation (PMID: 16411137). 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.

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.