ClinVar Genomic variation as it relates to human health
NM_000454.5(SOD1):c.87A>G (p.Pro29=)
Germline
Classification
(3)
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 | |||
SOD1 | - | - |
GRCh38 GRCh37 |
200 | 313 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Feb 17, 2022 | RCV002373696.2 | |
Likely benign (1) |
|
Aug 4, 2023 | RCV003100028.2 | |
SOD1-related disorder
|
Likely benign (1) |
|
Feb 19, 2019 | RCV003933772.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024