ClinVar Genomic variation as it relates to human health
NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)
Germline
Classification
(3)
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 | |||
GRM1 | - | - |
GRCh38 GRCh37 |
339 | 364 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (2) |
|
Apr 19, 2019 | RCV000768403.2 | |
Pathogenic (1) |
|
Nov 1, 2019 | RCV001255402.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023