ClinVar Genomic variation as it relates to human health
NM_003376.6(VEGFA):c.576_589del (p.Ala193fs)
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 | |||
VEGFA | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 69 | |
POLR1C | - | - |
GRCh38 GRCh37 |
183 | 2425 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
VEGFA-related disorder
|
Likely pathogenic (1) |
|
May 17, 2023 | RCV003397759.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024