ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln) (rs766225545)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000612526 SCV000713277 likely benign not specified 2017-05-25 criteria provided, single submitter clinical testing p.Arg920Gln in exon 15 of GPR98: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, five mammals have a glutamine (Gln) at this position despite high nearby a mino acid conservation. It has been identified in 2/125856 European chromosomes, 1/29848 South Asian chromosomes, and 1/33630 Latino chromosomes by the Genome A ggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs766225545 ).
Invitae RCV001052448 SCV001216658 uncertain significance not provided 2020-08-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 920 of the ADGRV1 protein (p.Arg920Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs766225545, ExAC 0.01%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 505841). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; 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.

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