ClinVar Genomic variation as it relates to human health
NM_000229.2(LCAT):c.903C>T (p.Asp301=)
Germline
Classification
(3)
Likely benign
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 | |||
LCAT | - | - |
GRCh38 GRCh37 |
204 | 268 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 22, 2022 | RCV002378462.2 | |
Likely benign (1) |
|
May 22, 2023 | RCV003560993.1 | |
LCAT-related disorder
|
Likely benign (1) |
|
Mar 12, 2019 | RCV003973393.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024