ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004576233 SCV005053560 likely pathogenic Hermansky-Pudlak syndrome 2 2024-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004576233 SCV005840694 pathogenic Hermansky-Pudlak syndrome 2 2024-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1006Lysfs*5) 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. ClinVar contains an entry for this variant (Variation ID: 3239765). For these reasons, this variant has been classified as Pathogenic.

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