Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000695776 | SCV000824296 | likely pathogenic | BAP1-related tumor predisposition syndrome | 2023-12-27 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 13 of the BAP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BAP1 are known to be pathogenic (PMID: 21874000, 23684012). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with BAP1-related conditions (PMID: 30414346, 31382694). ClinVar contains an entry for this variant (Variation ID: 573966). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800854 | SCV002047166 | likely pathogenic | not provided | 2021-05-21 | criteria provided, single submitter | clinical testing | This variant is located in a canonical splice-acceptor site and is predicted to interfere with normal BAP1 mRNA splicing. To the best of our knowledge, the variant has not been reported in the published literature. This variant has not been reported in large, multi-ethnic general populations. Based on the available information, this variant is classified as likely pathogenic. |