ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) (rs63750155)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640607 SCV000762201 uncertain significance Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3 2017-12-06 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 178 of the PSEN1 protein (p.Ser178Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Alzheimer's disease (PMID: 11524469). ClinVar contains an entry for this variant (Variation ID: 98048). Experimental studies have shown that this missense change reduces the secretase activity of the PSEN1 protein and abrogates production of AB42 and AB40 (PMID: 2793034). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
VIB Department of Molecular Genetics, University of Antwerp RCV000084334 SCV000116470 not provided not provided no assertion provided not provided

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