Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527480 | SCV000651853 | pathogenic | BAP1-related tumor predisposition syndrome | 2023-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 472667). This premature translational stop signal has been observed in individual(s) with malignant mesothelioma (PMID: 21874000, 23684012, 27507853). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser460*) in the BAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BAP1 are known to be pathogenic (PMID: 21874000, 23684012). |
Baylor Genetics | RCV000527480 | SCV004214937 | pathogenic | BAP1-related tumor predisposition syndrome | 2021-07-22 | criteria provided, single submitter | clinical testing |