Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415376 | SCV000493061 | likely pathogenic | Mental deterioration; Dementia | 2015-02-06 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000084370 | SCV000843422 | pathogenic | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000084370 | SCV001447788 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001387954 | SCV001588727 | pathogenic | Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 | 2023-08-24 | criteria provided, single submitter | clinical testing | This missense change has been observed in individuals with early-onset Alzheimer disease (PMID: 8634712, 16033913, 28350801). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs63750301, gnomAD 0.005%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 264 of the PSEN1 protein (p.Pro264Leu). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects PSEN1 function (PMID: 11959395, 26438723). 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: 98080). |
Ce |
RCV000084370 | SCV004184412 | pathogenic | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | PSEN1: PM2, PM5, PS3:Moderate, PS4:Moderate, PP3, PP4 |
VIB Department of Molecular Genetics, |
RCV000084370 | SCV000116506 | not provided | not provided | no assertion provided | not provided |