ClinVar Genomic variation as it relates to human health
NM_000642.3(AGL):c.3173T>G (p.Ile1058Ser)
Germline
Classification
(3)
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 | |||
AGL | - | - |
GRCh38 GRCh37 |
2635 | 2654 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (2) |
|
Apr 11, 2023 | RCV002624722.2 | |
Uncertain significance (1) |
|
Feb 27, 2023 | RCV003162045.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 20, 2023