ClinVar Genomic variation as it relates to human health
NM_000156.6(GAMT):c.50del (p.Ser17fs)
Germline
Classification
(2)
Pathogenic/Likely pathogenic
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 | |||
GAMT | - | - |
GRCh38 GRCh37 |
464 | 658 | |
LOC130062945 | - | - | - | GRCh38 | - | 164 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 24, 2021 | RCV003461655.1 | |
Pathogenic (1) |
|
Feb 5, 2023 | RCV003586425.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024