ClinVar Genomic variation as it relates to human health
NM_000233.4(LHCGR):c.29T>C (p.Leu10Pro)
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 | |||
LHCGR | - | - |
GRCh38 GRCh37 |
- | 263 | |
STON1-GTF2A1L | - | - | - |
GRCh38 GRCh37 |
- | 304 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
LHCGR-related disorder
|
Likely pathogenic (1) |
|
Apr 9, 2023 | RCV003391556.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024