ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) (rs375921325)

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,Partners HealthCare Personalized Medicine RCV000039609 SCV000063298 likely benign not specified 2013-02-19 criteria provided, single submitter clinical testing Ala2148Val in exon 29 of GPR98: This variant is not expected to have clinical si gnificance because it is has been identified in 3/3124 (0.09%) African American chromosomes from a broad population by the NHLBI Exome sequencing project (http: //evs.gs.washington.edu/EVS/) and due to a lack of conservation across species, including mammals. Of note, possum has a valine (Val) at this position despite h igh nearby amino acid conservation. In addition, this variant has now been ident ified in our laboratory in two individuals, neither of whom had a second GPR98 v ariant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724387 SCV000228734 uncertain significance not provided 2015-01-16 criteria provided, single submitter clinical testing
Invitae RCV000724387 SCV001537753 uncertain significance not provided 2020-09-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2148 of the ADGRV1 protein (p.Ala2148Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs375921325, ExAC 0.1%). This variant has not been reported in the literature in individuals with ADGRV1-related disease. ClinVar contains an entry for this variant (Variation ID: 46353). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.