Submissions for variant NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)

gnomAD frequency: 0.00177  dbSNP: rs61744480

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150754	SCV000198211	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ile508Leu in Exon 09 of GPR98: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (24/6556) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs61744480).
Eurofins Ntd Llc (ga)	RCV000150754	SCV000233172	likely benign	not specified	2015-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000891203	SCV000728513	likely benign	not provided	2022-01-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30180840, 26969326)
Invitae	RCV000891203	SCV001035003	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000891203	SCV001142926	uncertain significance	not provided	2018-12-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000891203	SCV001154433	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ADGRV1: BS2
Illumina Laboratory Services, Illumina	RCV001156567	SCV001318075	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.
PreventionGenetics, part of Exact Sciences	RCV003917471	SCV004741865	likely benign	ADGRV1-related condition	2023-11-14	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).