ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7631A>G (p.Glu2544Gly)

gnomAD frequency: 0.00003  dbSNP: rs111033523
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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, Mass General Brigham Personalized Medicine RCV000039634 SCV000063323 uncertain significance not specified 2010-01-28 criteria provided, single submitter clinical testing
Invitae RCV001340185 SCV001533984 uncertain significance not provided 2022-06-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 2544 of the ADGRV1 protein (p.Glu2544Gly). This variant is present in population databases (rs111033523, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 46378). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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