Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001061934 | SCV001226698 | pathogenic | Melnick-Fraser syndrome | 2019-04-06 | criteria provided, single submitter | clinical testing | Loss-of-function variants in EYA1 are known to be pathogenic (PMID: 18220287, 10464653). This sequence change creates a premature translational stop signal (p.Ala269Glufs*97) in the EYA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with brachio-oto-renal syndrome (PMID: 18220287, 15146463). This variant is also known as NM_172060.1:c.707delC (p.M332X) in the literature. For these reasons, this variant has been classified as Pathogenic. |