ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2757del (p.Ile919fs)

dbSNP: rs2112100189
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007241 SCV002236920 pathogenic Hermansky-Pudlak syndrome 2 2020-11-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with AP3B1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile919Metfs*8) 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).

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