ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) (rs202190568)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155112 SCV000204798 likely benign not specified 2016-10-06 criteria provided, single submitter clinical testing p.Arg4071Gln in exon 59 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, more than 10 different mammals have a glutamine (Gln) at this position despite high nearby amino acid conservation. In addition, this variant was iden tified in 0.1% (74/66372) of European chromosomes by the Exome Aggregation Conso rtium (ExAC,; dbSNP rs202190568).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000514796 SCV000231444 uncertain significance not provided 2014-08-22 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514796 SCV000610693 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
Invitae RCV000514796 SCV001059455 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000514796 SCV001154445 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155715 SCV001317170 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.
GeneDx RCV000514796 SCV001764659 likely benign not provided 2019-08-07 criteria provided, single submitter clinical testing

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