ClinVar Genomic variation as it relates to human health
NM_001008212.2(OPTN):c.1724G>A (p.Cys575Tyr)
Germline
Classification
(2)
Uncertain significance
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 | |||
OPTN | - | - |
GRCh38 GRCh37 |
383 | 515 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 29, 2024 | RCV003788027.2 | |
OPTN-related disorder
|
Uncertain significance (1) |
|
May 28, 2024 | RCV004736391.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024