Submissions for variant NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)

gnomAD frequency: 0.00056  dbSNP: rs201963060

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039642	SCV000063331	likely benign	not specified	2012-04-17	criteria provided, single submitter	clinical testing	p.Ile2721Val in exon 35 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. In addition, computational prediction tools do not suggest a high likelihood of im pact to the protein. It has been identified in 0.13% (60/38684) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs201963060).
Eurofins Ntd Llc (ga)	RCV000724489	SCV000229799	uncertain significance	not provided	2015-01-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000724489	SCV000978896	likely benign	not provided	2020-06-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32707200)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000724489	SCV001210534	likely benign	not provided	2025-01-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151661	SCV001312826	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	RCV000724489	SCV004032610	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4
Fulgent Genetics, Fulgent Genetics	RCV005031478	SCV005666297	uncertain significance	Usher syndrome type 2C; Febrile seizures, familial, 4	2024-03-13	criteria provided, single submitter	clinical testing