ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.1839_1842delTAGA

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Total submissions: 2
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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, Sanquin RCV000210304 SCV000266375 pathogenic Hermansky-Pudlak syndrome 2 2016-01-01 no assertion criteria provided research

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