Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV001808318 | SCV002058532 | likely pathogenic | Alzheimer disease 3 | 2022-01-03 | criteria provided, single submitter | clinical testing | The variant was co-segregated with Alzheimer disease, type 3 in multiple affected family members (PMID: 9172170, PP1_P). A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000021028, PMID:10533070,11524469,11684347,22475797,28350801, PM5_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.97, 3CNET: 0.996, PP3_P). A missense variant is a common mechanism associated with Alzheimer disease (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, |
RCV001808318 | SCV003932786 | pathogenic | Alzheimer disease 3 | 2023-03-21 | criteria provided, single submitter | research | This case has this variant as heterozygous |
VIB Department of Molecular Genetics, |
RCV000084355 | SCV000116491 | not provided | not provided | no assertion provided | not provided |