ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) (rs200197273)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155098 SCV000204782 uncertain significance not specified 2013-09-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg285Gly varia nt in GPR98 has not been reported in affected individuals, but has been identifi ed in 1.1% (2/178) of British chromosomes by the 1000 Genomes project, as well a s in 0.02% (2/8248) of European American chromosomes and 0.08% (3/3796) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS/; dbSNP rs200197273). Although this vari ant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational analyses (biochemical amino acid prop erties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong supp ort for or against an impact to the protein. In summary, the clinical significan ce of this variant cannot be determined with certainty; however, based upon its presence in the general population, we lean towards a more likely benign role.
Athena Diagnostics Inc RCV000710465 SCV000840691 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV000710465 SCV001200984 uncertain significance not provided 2019-12-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 285 of the ADGRV1 protein (p.Arg285Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs200197273, ExAC 0.1%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 178354). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV001154893 SCV001316287 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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