ClinVar Miner

Submissions for variant NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) (rs281865161)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000034924 SCV000951935 pathogenic Alzheimer's disease 2019-01-07 criteria provided, single submitter clinical testing This sequence change replaces lysine and methionine with asparagine and leucine at codons 670-671 of the APP protein (p.Lys670_Met671delinsAsnLeu). This variant is not present in population databases (ExAC no frequency). This variant, commonly known as the "Swedish mutation", has been observed to segregate with Alzheimer’s disease in several families (PMID: 1302033). ClinVar contains an entry for this variant (Variation ID: 18093). Experimental studies have shown that this sequence change disrupts protein function in vivo and in vitro (PMID: 8810256, 21335619, 23649480). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019720 SCV000040018 pathogenic Alzheimer disease, type 1 1998-10-22 no assertion criteria provided literature only
GeneReviews RCV000034924 SCV000058531 pathologic Alzheimer's disease 2010-12-23 no assertion criteria provided curation Converted during submission to Pathogenic.
VIB Department of Molecular Genetics, University of Antwerp RCV000084589 SCV000116725 not provided not provided no assertion provided not provided

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