ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys)

gnomAD frequency: 0.00001  dbSNP: rs876657822
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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, Mass General Brigham Personalized Medicine RCV000222486 SCV000271814 uncertain significance not specified 2015-11-09 criteria provided, single submitter clinical testing The p.Glu110Lys variant in GPR98 has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational p rediction tools and conservation analyses suggest that the p.Glu110Lys variant m ay impact the protein, though this information is not predictive enough to deter mine pathogenicity. In summary, the clinical significance of the p.Glu110Lys var iant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001240566 SCV001413526 likely benign not provided 2024-06-02 criteria provided, single submitter clinical testing
GeneDx RCV001240566 SCV001759494 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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