ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) (rs199988872)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725781 SCV000168739 likely benign not provided 2020-05-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26969326)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725781 SCV000339340 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000125295 SCV000711038 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing p.Val617Met in exon 10 of GPR98: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (28/10044) of Ashkenazi Jewis h chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins; dbSNP rs199988872).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000725781 SCV000884982 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing The ADGRV1 p.Val617Met variant (rs199988872) was reported in one individual with a diagnosis of Usher syndrome type 2C who also harbored the ADGRV1 p.Ile2332Phe variant (Sloan-Heggen 2016). The p.Val617Met variant is listed in the Genome Aggregation Database (gnomAD) with an allele frequency of 0.3 percent in the Ashkenazi Jewish population (identified on 28 out of 10,044 chromosomes) and has been reported to the ClinVar database (Variation ID: 137500). The valine at position 617 is highly conserved considering 12 species up to zebrafish (Alamut software v2.10.0), and computational analyses predict conflicting effects of this variant on protein structure/function (SIFT: damaging, GVGD: class C0, PolyPhen-2: possibly damaging). Altogether, there is not enough evidence to classify the p.Val617Met variant with certainty.
Mendelics RCV000987533 SCV001136848 uncertain significance Usher syndrome, type 2C 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987533 SCV001314128 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.
Invitae RCV000725781 SCV001730668 benign not provided 2020-11-02 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000725781 SCV001954473 uncertain significance not provided no assertion criteria provided clinical testing

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