Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000084570 | SCV000612389 | likely pathogenic | not provided | 2017-06-23 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000019724 | SCV003925659 | pathogenic | Alzheimer disease type 1 | 2023-05-05 | criteria provided, single submitter | clinical testing | Criteria applied: PS3,PS4_MOD,PM1,PM5,PM2_SUP,PP3 |
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, |
RCV000019724 | SCV003932785 | pathogenic | Alzheimer disease type 1 | 2023-03-21 | criteria provided, single submitter | research | This case has this variant as heterozygous |
Invitae | RCV003509483 | SCV004297369 | pathogenic | Alzheimer disease | 2023-08-02 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 715 of the APP protein (p.Val715Met). This missense change has been observed in individuals with early-onset Alzheimer disease (PMID: 10441572, 18437002; Invitae). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects APP function (PMID: 10097173, 11487570, 20452985). 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 APP protein function. ClinVar contains an entry for this variant (Variation ID: 18097). |
OMIM | RCV000019724 | SCV000040022 | pathogenic | Alzheimer disease type 1 | 1999-09-01 | no assertion criteria provided | literature only | |
VIB Department of Molecular Genetics, |
RCV000084570 | SCV000116706 | not provided | not provided | no assertion provided | not provided |