ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala)

gnomAD frequency: 0.01679  dbSNP: rs6889939
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039542 SCV000063231 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Val551Ala in Exon 09 of GPR98: This variant is not expected to have clinical sig nificance because it has been identified in 5.1% (157/3094) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs6889939).
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224862 SCV000281049 benign not provided 2015-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000039542 SCV000728514 benign not specified 2017-10-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000224862 SCV000840652 benign not provided 2018-01-30 criteria provided, single submitter clinical testing
Invitae RCV000224862 SCV001110283 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001156569 SCV001318077 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Fulgent Genetics, Fulgent Genetics RCV002496629 SCV002798370 benign Usher syndrome type 2C; Febrile seizures, familial, 4 2021-08-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039542 SCV000193246 likely benign not specified no assertion criteria provided clinical testing

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