ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5623G>A (p.Gly1875Arg)

gnomAD frequency: 0.00003  dbSNP: rs727503075
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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 RCV000150760 SCV000198229 uncertain significance not specified 2014-03-17 criteria provided, single submitter clinical testing The Gly1875Arg variant in GPR98 has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analyses suggest that the Gly1875Arg variant may impact the protein, though this information is not predictive enough to determi ne pathogenicity. In summary, additional information is needed to determine the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001850050 SCV002196113 likely benign not provided 2023-10-15 criteria provided, single submitter clinical testing

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