Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475581 | SCV000553935 | pathogenic | BAP1-related tumor predisposition syndrome | 2016-11-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 1 nucleotide from exon 13 of the BAP1 mRNA (c.1416delG), causing a frameshift at codon 473. This creates a premature translational stop signal (p.Ser473Valfs*98) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BAP1 are known to be pathogenic (PMID: 23684012, 21874000). |