Submissions for variant NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)

gnomAD frequency: 0.00086  dbSNP: rs188772875

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039574	SCV000063263	uncertain significance	not specified	2013-08-19	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The Tyr1170Cys vari ant in GPR98 has not been previously identified by our laboratory but has been i dentified in 0.16% (13/8284) of European American chromosomes in a broad populat ion by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; db SNP rs188772875). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational a nalyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Tyr1170Cys variant may impact the normal function of the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of this variant cannot be determ ined with certainty; however, based upon identification in controls and lack of reports in affected individuals, we would lean towards a more likely benign role .
Eurofins Ntd Llc (ga)	RCV000514418	SCV000337029	uncertain significance	not provided	2016-06-02	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514418	SCV000610704	uncertain significance	not provided	2017-09-11	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000514418	SCV000840667	uncertain significance	not provided	2018-04-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764614	SCV000895721	uncertain significance	Usher syndrome type 2C; Febrile seizures, familial, 4	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000514418	SCV001201759	benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155118	SCV001316527	uncertain significance	Usher syndrome type 2C	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000514418	SCV001818518	likely benign	not provided	2020-07-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514418	SCV004701563	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4
GenomeConnect - Invitae Patient Insights Network	RCV000514418	SCV001749862	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 01-24-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.