ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17722G>A (p.Ala5908Thr)

gnomAD frequency: 0.00001  dbSNP: rs560274484
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155654 SCV000205363 uncertain significance not specified 2013-05-07 criteria provided, single submitter clinical testing The Ala5908Thr variant in GPR98 has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV003764954 SCV004627040 benign not provided 2024-03-12 criteria provided, single submitter clinical testing
GeneDx RCV003764954 SCV005378240 uncertain significance not provided 2023-11-14 criteria provided, single submitter clinical testing 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

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.