ClinVar Genomic variation as it relates to human health
NM_001940.4(ATN1):c.824C>T (p.Pro275Leu)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(2)
Uncertain significance(1); Likely benign(2)
criteria provided, conflicting classifications
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 |
175 | 263 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Sep 1, 2023 | RCV003140175.13 | |
Likely benign (1) |
|
Sep 14, 2021 | RCV002822976.2 | |
ATN1-related disorder
|
Likely benign (1) |
|
Dec 13, 2022 | RCV004552237.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024