ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.305A>G (p.Asp102Gly)

gnomAD frequency: 0.00001  dbSNP: rs876657824
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Total submissions: 1
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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 RCV000222908 SCV000271817 uncertain significance not specified 2016-03-31 criteria provided, single submitter clinical testing The p.Asp102Gly variant in GPR98 has not been previously reported in individuals with hearing loss. Data from large population studies are insufficient to asses s the frequency of this variant. Computational prediction tools and conservation analysis suggest that the p.Asp102Gly variant may impact the protein, though th is information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Asp102Gly variant is uncertain.

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