ClinVar Genomic variation as it relates to human health
NM_000021.4(PSEN1):c.774A>G (p.Leu258=)
Germline
Classification
(2)
Likely benign
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
PSEN1 | - | - |
GRCh38 GRCh37 |
518 | 535 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 1, 2022 | RCV002623943.3 | |
PSEN1-related disorder
|
Likely benign (1) |
|
Nov 12, 2019 | RCV003946324.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024