ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12202G>A (p.Gly4068Arg)

gnomAD frequency: 0.00003  dbSNP: rs760011091
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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 RCV000611164 SCV000712312 uncertain significance not specified 2016-06-21 criteria provided, single submitter clinical testing The p.Gly4068Arg variant in GPR98 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 2/9648 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs760011091). Computational prediction tools and conservation anal ysis do not provide strong support for or against an impact to the protein. In s ummary, the clinical significance of the p.Gly4068Arg is uncertain.

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