Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537923 | SCV000629263 | pathogenic | Retinoblastoma | 2017-03-09 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 2-6 of the RB1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in RB1 are known to be pathogenic. A similar deletion of exons 2-6 has been reported in the literature in an individual affected with retinoblastoma (PMID: 16127685). For these reasons, this variant has been classified as Pathogenic. |