ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter)

dbSNP: rs121908906
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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 RCV000006749 SCV003525797 pathogenic Hermansky-Pudlak syndrome 2 2023-02-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 6377). This variant is also known as C1578T. This premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 11809908). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg509*) 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).
OMIM RCV000006749 SCV000026941 pathogenic Hermansky-Pudlak syndrome 2 2002-02-01 no assertion criteria provided literature only

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