ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5005A>G (p.Ile1669Val)

gnomAD frequency: 0.00004  dbSNP: rs760285831
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 RCV001881823 SCV002157487 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV003994348 SCV004812573 uncertain significance Usher syndrome type 2 2022-03-03 criteria provided, single submitter clinical testing This sequence change in ADGRV1 is predicted to replace isoleucine with valine at codon 1669, p.(Ile1669Val). The isoleucine residue is weakly conserved (100 vertebrates, UCSC), and is located in an extracellular domain. There is a small physicochemical difference between isoleucine and valine. The highest population minor allele frequency in gnomAD v2.1 is 0.008% (2/24,172 alleles) in the African/African American population, which is consistent with recessive disease. To our knowledge, this variant has not been reported in the literature in any individuals with ADGRV1-related disease. Multiple lines of computational evidence predict a benign effect for the missense substitution (6/6 algorithms). Based on the classification scheme RMH Modified ACMG Guidelines v1.5.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PM2_Supporting, BP4.
GeneDx RCV001881823 SCV005080208 uncertain significance not provided 2024-02-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; 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.