Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150765 | SCV000198251 | likely benign | not specified | 2014-08-19 | criteria provided, single submitter | clinical testing | Phe3085Leu in exon 43 of GPR98: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, guinea pig, chinchilla, flying fox, and megabat have a leucine (Leu) at t his position despite high nearby amino acid conservation. In addition, computati onal prediction tools do not suggest a high likelihood of impact to the protein. |