ClinVar Genomic variation as it relates to human health
NM_000388.4(CASR):c.2089G>A (p.Val697Met)
Germline
Classification
(1)
Likely 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 | |||
CASR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2725 | 2748 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CASR-related disorder
|
Likely pathogenic (1) |
|
Aug 30, 2023 | RCV004554906.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024