Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031899 | SCV001195206 | likely pathogenic | Retinoblastoma | 2019-11-26 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 18-23 of the RB1 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has been observed in an individual affected with retinoblastoma (Invitae). Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |