ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile)

gnomAD frequency: 0.00001  dbSNP: rs535976982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037363 SCV001200773 uncertain significance Hermansky-Pudlak syndrome 2 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 1056 of the AP3B1 protein (p.Met1056Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs535976982, ExAC 0.07%). 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. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264147 SCV002542990 uncertain significance Autoinflammatory syndrome 2018-06-01 criteria provided, single submitter clinical testing

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