ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) (rs41308297)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039649 SCV000063338 likely benign not specified 2016-07-07 criteria provided, single submitter clinical testing p.Ile2858Val in exon 38 of GPR98: This variant is not expected to have clinical significance because the isoleucine (Ile) at position 2858 is not conserved thro ugh species with 8 mammals having a valine (Val) at this position. In addition, this variant has been identified in 0.1% (91/65792) of European chromosomes an d in 0.2% (15/6590) of Finnish chromosomes by the Exome Aggregation Consortium ( ExAC,; dbSNP rs41308297).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000514669 SCV000229918 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514669 SCV000610710 uncertain significance not provided 2017-07-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514669 SCV000840692 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Invitae RCV000514669 SCV001032210 likely benign not provided 2020-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001154703 SCV001316083 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 RCV000514669 SCV001836155 benign not provided 2019-09-12 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000039649 SCV001921931 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000514669 SCV001926661 likely benign not provided no assertion criteria provided clinical testing

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