ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) (rs200945405)

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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 RCV000039572 SCV000063261 likely benign not specified 2016-09-11 criteria provided, single submitter clinical testing p.Gly1148Asp in exon 19 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.3% (50/16450) of South Asian ch romosomes and 0.2% (149/66614) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200945405).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710447 SCV000226968 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710447 SCV000840666 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000710447 SCV001025543 likely benign not provided 2020-11-16 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075536 SCV001241162 uncertain significance Retinal dystrophy 2018-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001154289 SCV001315631 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.
GeneDx RCV000710447 SCV001824908 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25133751, 28041643, 27068579, 25404053, 24154662)
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504767 SCV000599110 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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