ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8386G>C (p.Gly2796Arg)

dbSNP: rs1554088629
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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 RCV000607710 SCV000713489 uncertain significance not specified 2017-08-17 criteria provided, single submitter clinical testing The p.Gly2796Arg variant in GPR98 has not been previously reported in individual s with hearing loss or Usher syndrome, or in large population studies. Computati onal prediction tools and conservation analyses suggest that this variant may im pact the protein, though this information is not predictive enough to determine pathogenicity. This variant is located in the last base of the exon, which is pa rt of the 5' splice region. Computational tools suggest a possible impact to spl icing. However, this information is not predictive enough to determine pathogeni city. In summary, the clinical significance of this variant is uncertain.

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