ClinVar Genomic variation as it relates to human health
NM_000937.5(POLR2A):c.2723C>T (p.Thr908Met)
Germline
Classification
(2)
Uncertain significance
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 | |||
LOC126862481 | - | - | - |
GRCh38 GRCh38 |
- | 25 |
POLR2A | - | - |
GRCh38 GRCh38 GRCh37 |
271 | 347 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
POLR2A-related disorder
|
Uncertain significance (1) |
|
Jul 3, 2023 | RCV003414139.4 |
Uncertain significance (1) |
|
Feb 27, 2024 | RCV004362799.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024