ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12032G>T (p.Gly4011Val)

gnomAD frequency: 0.00001  dbSNP: rs369044000
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146069 SCV000193231 uncertain significance Febrile seizures, familial, 4 2013-10-30 criteria provided, single submitter clinical testing
Invitae RCV001857510 SCV002122487 uncertain significance not provided 2021-11-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs369044000, gnomAD 0.003%). 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. 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"). ClinVar contains an entry for this variant (Variation ID: 158646). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 4011 of the ADGRV1 protein (p.Gly4011Val).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222408 SCV002500591 uncertain significance not specified 2022-03-22 criteria provided, single submitter clinical testing

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.