Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000606359 | SCV000713509 | likely benign | not specified | 2017-08-25 | criteria provided, single submitter | clinical testing | p.Thr2767Ile in exon 36 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 4 mammals (sheep, domestic goat, bat and big brown bat) have an isoleucin e (Ile) at this position despite high nearby amino acid conservation. In additio n, computational prediction tools do not suggest a high likelihood of impact to the protein. |