ClinVar Miner

Submissions for variant NM_000484.4(APP):c.2150T>G (p.Val717Gly)

dbSNP: rs63749964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000084576 SCV002771850 pathogenic not provided 2021-10-27 criteria provided, single submitter clinical testing This variant has not been reported in large, multi-ethnic general populations. (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)) In some published literature, this variant is referred to as V642G. This variant has been identified in at least one individual with clinical features associated with this gene and appears to be associated with disease in at least one family. At least one other missense variant at this codon is considered to be pathogenic or likely pathogenic. Assessment of experimental evidence suggests this variant results in abnormal protein function. Experiments show this variant results in an increased ratio of amyloid-beta-42 to amyloid-beta-40 (PMID: 7806491, 8886002, 8650548, 20452985). Computational tools predict that this variant is damaging.
OMIM RCV000019716 SCV000040014 pathogenic Alzheimer disease type 1 1991-10-31 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084576 SCV000116712 not provided not provided no assertion provided not provided

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