ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu)

dbSNP: rs63751210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513897 SCV003442900 pathogenic Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2022-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 98041). This missense change has been observed in individuals with PSEN1-related conditions (PMID: 9831473, 11764087, 23483213). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 169 of the PSEN1 protein (p.Ser169Leu).
VIB Department of Molecular Genetics, University of Antwerp RCV000084325 SCV000116461 not provided not provided no assertion provided not provided

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