Submissions for variant NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)

gnomAD frequency: 0.00195  dbSNP: rs145556097

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039567	SCV000063256	likely benign	not specified	2017-12-21	criteria provided, single submitter	clinical testing	p.Asp1051Tyr in exon 17 of ADGRV1: This variant is not expected to have clinical significance because it has been identified in 0.29% (369/126480) of European chromosomes and 0.31% (105/34414) of Latino chromosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; db SNP rs145556097). ACMG/AMP criteria: BS1.
Genetic Services Laboratory, University of Chicago	RCV000146076	SCV000193259	uncertain significance	Febrile seizures, familial, 4	2013-08-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039567	SCV000226683	likely benign	not specified	2015-09-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000954913	SCV000321750	likely benign	not provided	2020-10-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23804846, 30180840, 22334370)
Invitae	RCV000954913	SCV001101580	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151210	SCV001312322	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.
Athena Diagnostics Inc	RCV000954913	SCV001475509	uncertain significance	not provided	2019-10-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000954913	SCV004159102	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003904941	SCV004726760	likely benign	ADGRV1-related condition	2019-10-24	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).