ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.570A>G (p.Glu190=)

dbSNP: rs2112491939
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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 RCV001877863 SCV002139435 uncertain significance Hermansky-Pudlak syndrome 2 2022-03-03 criteria provided, single submitter clinical testing This sequence change affects codon 190 of the AP3B1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AP3B1 protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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