ClinVar Genomic variation as it relates to human health
NM_006502.3(POLH):c.571A>C (p.Thr191Pro)
Germline
Classification
(2)
Likely pathogenic
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 | |||
POLH | - | - |
GRCh38 GRCh37 |
4 | 557 | |
POLR1C | - | - |
GRCh38 GRCh37 |
181 | 2301 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 20, 2023 | RCV003479531.2 | |
Likely pathogenic (1) |
|
Mar 7, 2023 | RCV003779188.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024