ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12896G>A (p.Arg4299Gln)

gnomAD frequency: 0.00002  dbSNP: rs767181564
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001916595 SCV002190040 likely benign not provided 2024-02-24 criteria provided, single submitter clinical testing
GeneDx RCV001916595 SCV003805772 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Neuberg Centre For Genomic Medicine, NCGM RCV004762255 SCV005373571 uncertain significance Febrile seizures, familial, 4 2023-06-02 criteria provided, single submitter clinical testing The missense variant c.12896G>A (p.Arg4299Gln) in ADGRV1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0008%) in the gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain Significance. However, no details are available for independent assessment. The amino acid Arginine at position 4299 is changed to a Glutamine changing protein sequence and it might alter its composition and physico- chemical properties. Computational evidence (Polyphen, SIFT and MutationTaster) predicts conflicting evidence on protein structure and function for this variant. The amino acid change p.Arg4299Gln in ADGRV1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as 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.