Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001994318 | SCV002270906 | uncertain significance | BAP1-related tumor predisposition syndrome | 2024-08-31 | criteria provided, single submitter | clinical testing | This sequence change affects codon 577 of the BAP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BAP1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1481899). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV003170358 | SCV003864300 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-14 | criteria provided, single submitter | clinical testing | The c.1731G>A variant (also known as p.E577E), located in coding exon 14 of the BAP1 gene, results from a G to A substitution at nucleotide position 1731. This nucleotide substitution does not change the at codon 577. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |