ClinVar Genomic variation as it relates to human health
NM_000702.4(ATP1A2):c.659C>T (p.Ser220Leu)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
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 | |||
ATP1A2 | - | - |
GRCh38 GRCh37 |
1199 | 1311 | |
LOC126805890 | - | - | - | GRCh38 | - | 101 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 31, 2023 | RCV003108251.3 | |
Uncertain significance (1) |
|
Feb 17, 2023 | RCV003482453.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024