ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.18125A>G (p.Gln6042Arg)

gnomAD frequency: 0.00001  dbSNP: rs764963960
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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 RCV000613842 SCV000731451 uncertain significance not specified 2017-02-02 criteria provided, single submitter clinical testing The p.Gln6042Arg variant in GPR98 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 2/66584 Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs764963960). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Com putational prediction tools and conservation analysis suggest that the p.Gln6042 Arg variant may not impact the protein, though this information is not predictiv e enough to rule out pathogenicity. In summary, the clinical significance of the p.Gln6042Arg variant is uncertain.
Invitae RCV003767743 SCV004637711 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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