ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1101dup (p.Phe368fs)

dbSNP: rs1744118616
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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 RCV001951031 SCV002238851 pathogenic Hermansky-Pudlak syndrome 2 2021-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe368Valfs*2) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with AP3B1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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