ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3580G>C (p.Asp1194His)

gnomAD frequency: 0.00002  dbSNP: rs779520200
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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 RCV000600844 SCV000712270 uncertain significance not specified 2016-06-21 criteria provided, single submitter clinical testing The p.Asp1194His variant in GPR98 has not been previously reported in individual s with hearing loss or Usher syndrome. This variant has been identified in 2/162 56 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs779520200). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogen ic role. Computational prediction tools and conservation analyses suggest that t his variant may impact the protein, though this information is not predictive en ough to determine pathogenicity. In summary, the clinical significance of the p .Asp1194His variant is uncertain.
Invitae RCV001203063 SCV001374209 likely benign not provided 2023-11-18 criteria provided, single submitter clinical testing

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