ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) (rs41303344)

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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 RCV000039630 SCV000063319 benign not specified 2012-03-26 criteria provided, single submitter clinical testing Arg249Lys in exon 7 of GPR98: This variant is not expected to have clinical sign ificance because it has been identified in 1.17% (77/6554) of European American chromosomes and 0.17% (5/2954) of African American chromosomes in a broad popula tion by the NHLBI Exome sequencing project (; d bSNP rs41303344).
GeneDx RCV000039630 SCV000168738 benign not specified 2013-05-03 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039630 SCV000344963 benign not specified 2016-09-19 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000430094 SCV000511515 likely benign not provided 2016-06-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Athena Diagnostics Inc RCV000430094 SCV000840684 benign not provided 2018-01-19 criteria provided, single submitter clinical testing
Invitae RCV000430094 SCV001117314 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000039630 SCV001156559 likely benign not specified 2018-11-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001154055 SCV001315375 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.
Genetic Services Laboratory,University of Chicago RCV000039630 SCV000193288 likely benign not specified no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504660 SCV000599112 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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