Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634149 | SCV000755448 | pathogenic | Branchiootorenal syndrome 1 | 2017-09-29 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 5-12 of the EYA1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This deletion has not been reported in the literature in individuals with EYA1-related disease. Loss-of-function variants in EYA1 are known to be pathogenic (PMID: 18220287). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV001387708 | SCV001588388 | pathogenic | Melnick-Fraser syndrome | 2017-09-23 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 5-12 of the EYA1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This deletion has not been reported in the literature in individuals with EYA1-related disease. Loss-of-function variants in EYA1 are known to be pathogenic (PMID: 18220287). For these reasons, this variant has been classified as Pathogenic. |