Submissions for variant NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=)

gnomAD frequency: 0.00062  dbSNP: rs200435877

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000332416	SCV000337277	likely benign	not specified	2015-11-19	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000332416	SCV000711035	benign	not specified	2016-04-21	criteria provided, single submitter	clinical testing	p.Ser377Ser in Exon 07 of GPR98: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.5% (75/16327) o f South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs200435877)
GeneDx	RCV000955342	SCV000728652	likely benign	not provided	2021-05-26	criteria provided, single submitter	clinical testing
Invitae	RCV000955342	SCV001102045	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001154898	SCV001316292	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.
CeGaT Center for Human Genetics Tuebingen	RCV000955342	SCV003916956	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003977770	SCV004789616	likely benign	ADGRV1-related condition	2020-03-03	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).
Clinical Genetics, Academic Medical Center	RCV000955342	SCV001917693	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000955342	SCV001968283	likely benign	not provided		no assertion criteria provided	clinical testing