Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156838 | SCV000206559 | uncertain significance | not specified | 2014-10-19 | criteria provided, single submitter | clinical testing | The p.Gly5223Arg variant in GPR98 gene has not been previously reported in indiv iduals with hearing loss or in large population studies. Computational predictio n tools and conservation analysis do not provide strong support for or against a n impact to the protein. In summary, the clinical significance of the Gly5223Arg variant is uncertain. |
Invitae | RCV001297791 | SCV001486822 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 5223 of the ADGRV1 protein (p.Gly5223Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 180035). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |