ClinVar Miner

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

dbSNP: rs63750155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640607 SCV000762201 uncertain significance Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2017-11-24 criteria provided, single submitter clinical testing 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. 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). This variant has been reported in individuals affected with Alzheimer's disease (PMID: 11524469). ClinVar contains an entry for this variant (Variation ID: 98048). This variant is not present in population databases (ExAC no frequency). 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.
VIB Department of Molecular Genetics, University of Antwerp RCV000084334 SCV000116470 not provided not provided no assertion provided not provided

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