ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1445A>G (p.His482Arg)

gnomAD frequency: 0.00001  dbSNP: rs370497154
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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 RCV001967691 SCV002225816 uncertain significance Hermansky-Pudlak syndrome 2 2021-10-09 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant is present in population databases (rs370497154, ExAC 0.01%). This sequence change replaces histidine with arginine at codon 482 of the AP3B1 protein (p.His482Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine.

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