ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.2709A>G (p.Gln903=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795354 SCV000934812 uncertain significance Hermansky Pudlak syndrome 2 2018-11-08 criteria provided, single submitter clinical testing This sequence change affects codon 903 of the AP3B1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AP3B1 protein. This variant is present in population databases (rs774631707, ExAC 0.006%). This variant has not been reported in the literature in individuals with AP3B1-related disease. 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. 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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