ClinVar Genomic variation as it relates to human health
NM_002633.3(PGM1):c.871G>A (p.Gly291Arg)
Germline
Classification
(2)
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 | |||
PGM1 | - | - |
GRCh38 GRCh37 |
364 | 459 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 25, 2023 | RCV002648157.2 | |
Likely pathogenic (1) |
|
Jun 22, 2023 | RCV003420398.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 11, 2024