ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1748C>T (p.Pro583Leu)

gnomAD frequency: 0.00010  dbSNP: rs148023800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698467 SCV000827133 uncertain significance Hermansky-Pudlak syndrome 2 2024-05-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 583 of the AP3B1 protein (p.Pro583Leu). This variant is present in population databases (rs148023800, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 576065). 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 disruptive. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507648 SCV001713329 uncertain significance not provided 2019-06-03 criteria provided, single submitter clinical testing
GeneDx RCV001507648 SCV001789275 uncertain significance not provided 2020-03-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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