ClinVar Genomic variation as it relates to human health
NM_002693.3(POLG):c.2084A>G (p.Asp695Gly)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(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 | |||
POLG | - | - |
GRCh38 GRCh37 |
1 | 2962 | |
POLGARF | - | - | GRCh38 | - | 2918 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 14, 2022 | RCV002800068.2 | |
Uncertain significance (1) |
|
Jan 24, 2024 | RCV002770374.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024