Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003470229 | SCV004197129 | likely pathogenic | Hermansky-Pudlak syndrome 2 | 2022-02-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003470229 | SCV004299759 | pathogenic | Hermansky-Pudlak syndrome 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly881Aspfs*2) in the AP3B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AP3B1 are known to be pathogenic (PMID: 16507770, 23403622). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. For these reasons, this variant has been classified as Pathogenic. |