ClinVar Genomic variation as it relates to human health
NM_000156.6(GAMT):c.134G>A (p.Trp45Ter)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
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 | |||
GAMT | - | - |
GRCh38 GRCh37 |
465 | 659 | |
LOC130062945 | - | - | - | GRCh38 | - | 164 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 6, 2023 | RCV003112399.4 | |
Pathogenic (2) |
|
Oct 12, 2023 | RCV003459777.2 | |
GAMT-related disorder
|
Pathogenic (1) |
|
Nov 1, 2023 | RCV003919013.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024