ClinVar Genomic variation as it relates to human health
NM_006502.3(POLH):c.1222_1225del (p.Thr408fs)
Germline
Classification
(3)
Pathogenic/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 | 566 | |
POLR1C | - | - |
GRCh38 GRCh37 |
183 | 2424 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 4, 2022 | RCV003140440.8 | |
POLH-related disorder
|
Pathogenic (1) |
|
Jan 18, 2023 | RCV003420564.4 |
Pathogenic (1) |
|
Jan 4, 2024 | RCV003561181.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024