Annotation Detail

Information
Associated Genes
VHL
Associated Variants
VHL p.Arg200Trp (p.R200W) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 )
VHL p.Arg200Trp (p.R200W) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 )
Associated Disease
familial erythrocytosis 2
Source Database
CIViC Evidence
Description
Homozygous VHL R200W mutations result in a rare congenital polycythemia known as Chuvash polycythemia. Treatment of 3 patients with this disease with the JAK1/2 inhibitor ruxolitinib led to symptomatic and hematologic improvements in all patients through 21-78 weeks of treatment.
Variant Origin
germline
Variant Origin
Rare Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1608
Gene URL
https://civic.genome.wustl.edu/links/genes/58
Variant URL
https://civic.genome.wustl.edu/links/variants/631
Rating
4
Evidence Type
Predictive
Disease
Chuvash Polycythemia
Evidence Direction
Supports
Drug
Ruxolitinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
27518686
Drugs
Drug NameSensitivitySupported
RuxolitinibSensitivitytrue