ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2629A>G (p.Met877Val)

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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 RCV002917433 SCV003247433 uncertain significance Hermansky-Pudlak syndrome 2 2022-07-11 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.004%). 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. 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. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 877 of the AP3B1 protein (p.Met877Val).

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