Total submissions: 4
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). |
Ce |
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, |
RCV000084564 | SCV000116700 | not provided | not provided | no assertion provided | not provided |