ClinVar Genomic variation as it relates to human health
NM_001940.4(ATN1):c.536C>T (p.Pro179Leu)
Germline
Classification
(2)
Benign/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 | |||
ATN1 | - | - |
GRCh38 GRCh37 |
172 | 260 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 27, 2022 | RCV002669561.2 | |
ATN1-related disorder
|
Benign (1) |
|
Sep 17, 2019 | RCV004550493.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024