Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601811 | SCV000731509 | uncertain significance | not specified | 2017-03-28 | criteria provided, single submitter | clinical testing | The p.Val1281Ile variant in GPR98 has not been previously reported in individual s with hearing loss. This variant has been identified in 1/111606 European chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org). Although this variant has been seen in the general population, its freque ncy is not high enough to rule out a pathogenic role. Computational prediction t ools and conservation analysis do not provide strong support for or against an i mpact to the protein. In summary, the clinical significance of the p.Val1281Ile variant is uncertain. |