Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813567 | SCV000953933 | pathogenic | Melnick-Fraser syndrome | 2019-01-11 | 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). 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.Ala473Glyfs*6) in the EYA1 gene. It is expected to result in an absent or disrupted protein product. |