Submissions for variant NM_003664.4(AP3B1):c.869C>T (p.Pro290Leu) (rs759296897)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000640583	SCV000762177	uncertain significance	Hermansky Pudlak syndrome 2	2018-11-09	criteria provided, single submitter	clinical testing	This sequence change replaces proline with leucine at codon 290 of the AP3B1 protein (p.Pro290Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs759296897, ExAC 0.03%). 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: "Benign"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics,Fulgent Genetics	RCV000640583	SCV000895719	uncertain significance	Hermansky Pudlak syndrome 2	2018-10-31	criteria provided, single submitter	clinical testing

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