ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2577T>C (p.Ser859=)

gnomAD frequency: 0.00002  dbSNP: rs755754414
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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 RCV001320868 SCV001511675 uncertain significance Hermansky-Pudlak syndrome 2 2021-08-12 criteria provided, single submitter clinical testing This sequence change affects codon 859 of the AP3B1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AP3B1 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs755754414, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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