ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1061T>A (p.Leu354Gln)

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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 RCV002999891 SCV003302892 uncertain significance Hermansky-Pudlak syndrome 2 2023-07-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 2086906). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 354 of the AP3B1 protein (p.Leu354Gln).

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