ClinVar Genomic variation as it relates to human health
NM_001330360.2(POLA1):c.3669C>T (p.His1223=)
Germline
Classification
(2)
Likely benign
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 | |||
POLA1 | - | - |
GRCh38 GRCh37 |
632 | 806 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 29, 2023 | RCV003843007.1 | |
POLA1-related disorder
|
Likely benign (1) |
|
Aug 7, 2019 | RCV003909185.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024