Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155612 | SCV000205320 | uncertain significance | not specified | 2013-04-10 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The -11G>A variant in GPR98 has not been reported in individuals affected with hearing loss or in l arge population studies. This variant is located in the 5'UTR. Although we cann ot rule out a deleterious impact on the regulation of splicing or translation of GPR98, to date no disease-causing variants have been found in this region of th e transcript. Furthermore, the nucleotide at this position is not highly conserv ed across species suggesting that a change may be tolerated. In summary, the cl inical significance of this variant cannot be determined with certainty at this time; however based upon the available data, we would lean towards a more likely benign role. |