ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10466G>A (p.Gly3489Glu)

gnomAD frequency: 0.00001  dbSNP: rs780372483
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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, Mass General Brigham Personalized Medicine RCV000214152 SCV000271800 uncertain significance not specified 2017-05-16 criteria provided, single submitter clinical testing The p.Gly3489Glu variant in GPR98 has not been previously reported in individual s with hearing loss, but has been identified in 1/15182 African chromosomes by t he Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs780372483). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predi ction tools and conservation analyses do not provide strong support for or again st an impact to the protein. In summary, the clinical significance of the p.Gly3 489Glu variant is uncertain.
GeneDx RCV001550741 SCV001771124 uncertain significance not provided 2019-11-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001550741 SCV002253411 uncertain significance not provided 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 3489 of the ADGRV1 protein (p.Gly3489Glu). This variant is present in population databases (rs780372483, gnomAD 0.007%). 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: 228703). 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV002503854 SCV002815822 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2022-03-07 criteria provided, single submitter clinical testing

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