ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln) (rs534266547)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825106 SCV000966360 likely benign not specified 2018-02-28 criteria provided, single submitter clinical testing p.Arg4802Gln in exon 70 of ADGRV1: This variant is classified as likely benign d ue to a lack of conservation across species, including mammals. Of note, more th an 10 mammals have a glutamine (Gln) at this position despite high nearby amino acid conservation. In addition, this variant has been identified in 0.09% (16/17 120) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http: //; dbSNP: rs534266547). ACMG/AMP Criteria applied: BP4 _Strong.
Invitae RCV001055455 SCV001219848 uncertain significance not provided 2020-05-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 4802 of the ADGRV1 protein (p.Arg4802Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs534266547, 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: 666649). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0. The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV001157526 SCV001319114 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.

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