Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000084576 | SCV002771850 | pathogenic | not provided | 2021-10-27 | criteria provided, single submitter | clinical testing | This variant has not been reported in large, multi-ethnic general populations. (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)) In some published literature, this variant is referred to as V642G. This variant has been identified in at least one individual with clinical features associated with this gene and appears to be associated with disease in at least one family. At least one other missense variant at this codon is considered to be pathogenic or likely pathogenic. Assessment of experimental evidence suggests this variant results in abnormal protein function. Experiments show this variant results in an increased ratio of amyloid-beta-42 to amyloid-beta-40 (PMID: 7806491, 8886002, 8650548, 20452985). Computational tools predict that this variant is damaging. |
OMIM | RCV000019716 | SCV000040014 | pathogenic | Alzheimer disease type 1 | 1991-10-31 | no assertion criteria provided | literature only | |
VIB Department of Molecular Genetics, |
RCV000084576 | SCV000116712 | not provided | not provided | no assertion provided | not provided |