Submissions for variant NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)

gnomAD frequency: 0.00135  dbSNP: rs183447491

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155102	SCV000204787	likely benign	not specified	2016-02-26	criteria provided, single submitter	clinical testing	p.Asp1085Asp in Exon 17 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.2% (144/66728) o f European and in 0.2% (36/16502) of South Asian chromosomes by the Exome Aggreg ation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs183447491)
Eurofins Ntd Llc (ga)	RCV000155102	SCV000341310	likely benign	not specified	2016-05-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000890477	SCV000714346	likely benign	not provided	2021-09-17	criteria provided, single submitter	clinical testing
Invitae	RCV000890477	SCV001034223	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151214	SCV001312326	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.
Athena Diagnostics Inc	RCV000155102	SCV001476088	benign	not specified	2019-11-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000890477	SCV004159104	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000155102	SCV001917761	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000155102	SCV001932316	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000890477	SCV001970627	likely benign	not provided		no assertion criteria provided	clinical testing