ClinVar Miner

Submissions for variant NM_000484.4(APP):c.2080G>A (p.Asp694Asn)

dbSNP: rs63749810
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687111 SCV000814663 pathogenic Alzheimer disease 2022-08-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects APP function (PMID: 11441013, 26402770). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 18101). This missense change has been observed in individuals with cerebral amyloid angiopathy (CAA) (PMID: 20228223, 24878480, 26104569, 27000221, 27858710, 28350801). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 694 of the APP protein (p.Asp694Asn).
CeGaT Center for Human Genetics Tuebingen RCV000084564 SCV001962410 pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
OMIM RCV000019729 SCV000040027 pathogenic ABeta amyloidosis, Iowa type 2003-03-25 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084564 SCV000116700 not provided not provided no assertion provided not provided

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