Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |