Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815476 | SCV000955932 | pathogenic | Alzheimer disease | 2021-11-03 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 18089). This variant is also known as Val642Phe. This missense change has been observed in individuals with early-onset Alzheimer's disease (PMID: 1925564, 15776278). 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 valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 717 of the APP protein (p.Val717Phe). Experimental studies have shown that this missense change affects APP function (PMID: 7806491, 7845465, 8191290, 11528419, 12707272, 20452985). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV002054452 | SCV002496698 | pathogenic | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Institute Of Human Genetics Munich, |
RCV000019715 | SCV004045802 | pathogenic | Alzheimer disease type 1 | 2023-07-26 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000019715 | SCV000040013 | pathogenic | Alzheimer disease type 1 | 1999-12-21 | no assertion criteria provided | literature only |