Submissions for variant NM_003664.4(AP3B1):c.1748C>T (p.Pro583Leu) (rs148023800)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000698467	SCV000827133	uncertain significance	Hermansky Pudlak syndrome 2	2018-05-09	criteria provided, single submitter	clinical testing	This sequence change replaces proline with leucine at codon 583 of the AP3B1 protein (p.Pro583Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs148023800, ExAC 0.06%). This variant has not been reported in the literature in individuals with AP3B1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.

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