ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) (rs73175207)

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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, Partners HealthCare Personalized Medicine RCV000039656 SCV000063345 benign not specified 2011-05-04 criteria provided, single submitter clinical testing Arg2959Gln in exon 40 of GPR98: This variant is not expected to have clinical si gnificance because this residue is not conserved across species. Of note, mouse, elephant and frog have a glutamine at this position. In addition, this variant has been identified in dbSNP in 6.8% (8/118) West African control chromosomes (r s73175207).
GeneDx RCV000039656 SCV000168716 benign not specified 2014-02-10 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.
PreventionGenetics,PreventionGenetics RCV000039656 SCV000314879 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710468 SCV000840695 benign not provided 2017-09-14 criteria provided, single submitter clinical testing
Invitae RCV000710468 SCV001103050 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155532 SCV001316966 benign Usher syndrome, type 2C 2018-01-13 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284935 SCV001471035 benign none provided 2020-04-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039656 SCV000193296 likely benign not specified no assertion criteria provided clinical testing

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