Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001061599 | SCV001226347 | pathogenic | Hermansky-Pudlak syndrome 2 | 2019-03-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AP3B1 are known to be pathogenic (PMID: 16507770, 23403622). This variant has not been reported in the literature in individuals with AP3B1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp260*) in the AP3B1 gene. It is expected to result in an absent or disrupted protein product. |