Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000210304 | SCV004293745 | pathogenic | Hermansky-Pudlak syndrome 2 | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp613Glufs*38) 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 present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 28585318, 29580292). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 224764). For these reasons, this variant has been classified as Pathogenic. |
Blood Cell Research, |
RCV000210304 | SCV000266375 | pathogenic | Hermansky-Pudlak syndrome 2 | 2016-01-01 | no assertion criteria provided | research |