Submissions for variant NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val)

gnomAD frequency: 0.00221  dbSNP: rs199873924

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039586	SCV000063275	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ile155Val in Exon 05 of GPR98: This variant is not expected to have clinical sig nificance because it has been identified in 0.7% (23/3260) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga)	RCV000039586	SCV000341006	likely benign	not specified	2016-05-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001154050	SCV001315370	uncertain significance	Usher syndrome type 2C	2018-01-12	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.
Invitae	RCV001516861	SCV001725220	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001516861	SCV001845038	benign	not provided	2019-01-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003904943	SCV004726951	likely benign	ADGRV1-related condition	2019-08-29	criteria provided, single submitter	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).