ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) (rs41308846)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039604 SCV000063293 benign not specified 2015-05-14 criteria provided, single submitter clinical testing p.Gly2045Arg in exon 28 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.7% (480/67628) of European chro mosomes by the Exome Aggregation Consortium, including one homozygote (ExAC, htt p://exac.broadinstitute.org; dbSNP rs41308846).
Genetic Services Laboratory,University of Chicago RCV000146082 SCV000193279 uncertain significance Febrile seizures, familial, 4 2014-03-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039604 SCV000228652 benign not specified 2015-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000039604 SCV000321751 likely benign not specified 2017-11-29 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000442158 SCV000511519 likely benign not provided 2017-01-31 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Athena Diagnostics Inc RCV000442158 SCV000840676 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000039604 SCV000884987 benign not specified 2019-06-10 criteria provided, single submitter clinical testing
Invitae RCV000442158 SCV001121816 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000987536 SCV001136851 benign Usher syndrome, type 2C 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987536 SCV001315854 uncertain significance 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, 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.

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