ClinVar Genomic variation as it relates to human health
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(3)
Likely pathogenic(1); Uncertain significance(3)
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 | |||
ATP1A3 | - | - |
GRCh38 GRCh37 |
1127 | - |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 5, 2016 | RCV001004671.2 | |
Uncertain significance (1) |
|
Jun 26, 2021 | RCV001585916.3 | |
Likely pathogenic (1) |
|
- | RCV002274115.2 | |
Uncertain significance (1) |
|
Jan 20, 2023 | RCV003626655.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024