ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met) (rs375258567)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150785 SCV000198286 likely benign not specified 2013-11-22 criteria provided, single submitter clinical testing Val4589Met in exon 68 of GPR98: This variant is not expected to have clinical si gnificance because the valine (Val) residue at position 4589 is poorly conserve d across species, with several species (pig, cow, and hedgehog) having a methion ine (Met) at this position. In addition, computational tools predict that the va riant may not impact the protein.
Invitae RCV001048288 SCV001212283 uncertain significance not provided 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 4589 of the ADGRV1 protein (p.Val4589Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 163616). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C0. The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.