ClinVar Miner

Submissions for variant NM_000484.4(APP):c.2149G>T (p.Val717Phe)

dbSNP: rs63750264
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Total submissions: 4
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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.
CeGaT Center for Human Genetics Tuebingen RCV002054452 SCV002496698 pathogenic not provided 2022-01-01 criteria provided, single submitter clinical testing
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 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

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