ClinVar Genomic variation as it relates to human health
NM_000290.4(PGAM2):c.673A>C (p.Lys225Gln)
Germline
Classification
(2)
Uncertain significance
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 | |||
DBNL | - | - |
GRCh38 GRCh37 |
24 | 209 | |
PGAM2 | - | - |
GRCh38 GRCh37 |
2 | 187 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 27, 2022 | RCV002961949.1 | |
Uncertain significance (1) |
|
May 23, 2023 | RCV003250648.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 17, 2023