ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1091_1092delinsAT (p.Arg364Asn)

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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 RCV003615622 SCV004539475 uncertain significance Hermansky-Pudlak syndrome 2 2023-04-10 criteria provided, single submitter clinical testing 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 tolerated. This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.07%). This sequence change replaces arginine, which is basic and polar, with asparagine, which is neutral and polar, at codon 364 of the AP3B1 protein (p.Arg364Asn).

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