ClinVar Miner

Submissions for variant NM_000447.3(PSEN2):c.683A>T (p.Gln228Leu)

gnomAD frequency: 0.00001  dbSNP: rs63750880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003509494 SCV004292976 uncertain significance Alzheimer disease 4 2023-08-14 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with early-onset Alzheimer disease (PMID: 14769392, 30279455). This variant is present in population databases (rs63750880, gnomAD 0.002%). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 228 of the PSEN2 protein (p.Gln228Leu). ClinVar contains an entry for this variant (Variation ID: 97997). 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 PSEN2 protein function.
VIB Department of Molecular Genetics, University of Antwerp RCV000084264 SCV000116400 not provided not provided no assertion provided not provided

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