ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.280G>A (p.Val94Met)

gnomAD frequency: 0.00001  dbSNP: rs63750831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001854471 SCV002216952 uncertain significance Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2022-06-27 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects PSEN1 function (PMID: 27930341). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PSEN1 protein function. ClinVar contains an entry for this variant (Variation ID: 98008). This missense change has been observed in individual(s) with early-onset Alzheimer disease (PMID: 11568920). This variant is present in population databases (rs63750831, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 94 of the PSEN1 protein (p.Val94Met).
VIB Department of Molecular Genetics, University of Antwerp RCV000084287 SCV000116423 not provided not provided no assertion provided not provided

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