ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) (rs661)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640605 SCV000762199 pathogenic Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3 2017-11-16 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 410 of the PSEN1 protein (p.Cys410Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in families affected with early onset Alzheimer's disease (PMID: 17545141, 17553989, 24880964). This variant has also been to found segregate with early onset Alzheimer's disease in several families (PMID: 7596406, 8634712). ClinVar contains an entry for this variant (Variation ID: 18127). Experimental studies have shown that this missense change affects protein function (PMID: 27100199, 24011544, 27100200, 23843529, 20484632, 27930341, 25741723, 22115042, 9680315, 17288597, 21559374, 9196071). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019755 SCV000040053 pathogenic Alzheimer disease, type 3 1995-06-29 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084407 SCV000116543 not provided not provided no assertion provided not provided

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