ClinVar Genomic variation as it relates to human health
NM_000162.5(GCK):c.461T>G (p.Val154Gly)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Likely pathogenic
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 | |||
GCK | - | - |
GRCh38 GRCh37 |
1080 | 1106 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 8, 2023 | RCV003481517.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 26, 2024