ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1619dup (p.Ala541fs)

dbSNP: rs1753129765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383893 SCV001583215 pathogenic Hermansky-Pudlak syndrome 2 2023-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala541Serfs*25) 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 premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 14566336). ClinVar contains an entry for this variant (Variation ID: 1071422). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001383893 SCV000026937 pathogenic Hermansky-Pudlak syndrome 2 2003-11-01 no assertion criteria provided literature only

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