ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17192C>G (p.Ser5731Cys)

gnomAD frequency: 0.00001  dbSNP: rs727503086
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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 RCV000150792 SCV000198301 uncertain significance not specified 2013-11-26 criteria provided, single submitter clinical testing The Ser5731Cys variant in GPR98 has not been previously reported in individuals with hearing loss or in large population studies. Computational analyses (bioche mical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do no t provide strong support for or against an impact to the protein. In summary, ad ditional data is needed to determine the clinical significance of this variant.

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