ClinVar Genomic variation as it relates to human health
NM_005787.6(ALG3):c.487C>T (p.Arg163Cys)
Germline
Classification
(1)
Likely pathogenic
criteria provided, single submitter
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 | |||
ALG3 | - | - |
GRCh38 GRCh37 |
201 | 250 | |
EEF1AKMT4 | - | - | - | GRCh38 | - | 38 |
EEF1AKMT4-ECE2 | - | - | - | GRCh38 | - | 102 |
MIR1224 | - | - |
GRCh38 GRCh37 |
- | 45 | |
VWA5B2 | - | - | - |
GRCh38 GRCh37 |
90 | 138 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 15, 2023 | RCV003448925.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024