Submissions for variant NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)

gnomAD frequency: 0.00104  dbSNP: rs41305898

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039581	SCV000063270	likely benign	not specified	2015-05-28	criteria provided, single submitter	clinical testing	p.Ser1405Phe in exon 20 of GPR98: This variant is not likely to have clinical si gnificance because it was identified in 0.17% (104/61754) European chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs41305898).
Eurofins Ntd Llc (ga)	RCV000723975	SCV000227723	uncertain significance	not provided	2016-11-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000723975	SCV000883366	likely benign	not provided	2019-08-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000723975	SCV000968944	likely benign	not provided	2020-11-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22135276)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000723975	SCV001046119	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723975	SCV001154435	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4, BS2
Illumina Laboratory Services, Illumina	RCV001151335	SCV001312456	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.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000039581	SCV001984588	likely benign	not specified	2020-03-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549466	SCV004793662	likely benign	ADGRV1-related disorder	2023-09-14	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).