ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1762G>A (p.Gly588Arg)

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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 RCV003881352 SCV004686339 uncertain significance Hermansky-Pudlak syndrome 2 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 588 of the AP3B1 protein (p.Gly588Arg). This variant is present in population databases (rs760206626, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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