ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1853A>G (p.Gln618Arg)

dbSNP: rs2112298805
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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 RCV001885440 SCV002110131 uncertain significance Hermansky-Pudlak syndrome 2 2021-09-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This sequence change replaces glutamine with arginine at codon 618 of the AP3B1 protein (p.Gln618Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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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