Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235903 | SCV000948952 | pathogenic | Melnick-Fraser syndrome | 2018-10-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EYA1 are known to be pathogenic (PMID: 18220287, 10464653). This variant has not been reported in the literature in individuals with EYA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val452Trpfs*8) in the EYA1 gene. It is expected to result in an absent or disrupted protein product. |