Submissions for variant NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)

gnomAD frequency: 0.00088  dbSNP: rs41308297

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039649	SCV000063338	likely benign	not specified	2016-07-07	criteria provided, single submitter	clinical testing	p.Ile2858Val in exon 38 of GPR98: This variant is not expected to have clinical significance because the isoleucine (Ile) at position 2858 is not conserved thro ugh species with 8 mammals having a valine (Val) at this position. In addition, this variant has been identified in 0.1% (91/65792) of European chromosomes an d in 0.2% (15/6590) of Finnish chromosomes by the Exome Aggregation Consortium ( ExAC, http://exac.broadinstitute.org; dbSNP rs41308297).
Eurofins Ntd Llc (ga)	RCV000514669	SCV000229918	uncertain significance	not provided	2017-05-15	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514669	SCV000610710	uncertain significance	not provided	2017-07-06	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000039649	SCV000840692	likely benign	not specified	2024-04-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514669	SCV001032210	likely benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001154703	SCV001316083	uncertain significance	Usher syndrome type 2C	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000514669	SCV001836155	benign	not provided	2019-09-12	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039649	SCV001921931	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000514669	SCV001926661	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514669	SCV001967043	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549471	SCV004749617	likely benign	ADGRV1-related disorder	2022-02-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).