ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2900A>G (p.Lys967Arg)

gnomAD frequency: 0.00009  dbSNP: rs766616397
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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 RCV000799011 SCV000938658 uncertain significance Hermansky-Pudlak syndrome 2 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 967 of the AP3B1 protein (p.Lys967Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs766616397, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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