ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.1199G>A (p.Arg400His)

gnomAD frequency: 0.00003  dbSNP: rs746177954
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649884 SCV000771720 uncertain significance Febrile seizures, familial, 11 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 400 of the CPA6 protein (p.Arg400His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs746177954, ExAC 0.02%). This missense change has been observed in individual(s) with focal epilepsy (PMID: 27781031). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 539976). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Institute of Human Genetics, University Hospital Muenster RCV002287433 SCV002578094 uncertain significance See cases 2021-12-08 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3

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.