ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2765A>G (p.Lys922Arg)

dbSNP: rs1554059568
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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 RCV000640581 SCV000762175 uncertain significance Hermansky-Pudlak syndrome 2 2017-12-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 922 of the AP3B1 protein (p.Lys922Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AP3B1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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