Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Ser65Leu (p.S65L)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Ser65Leu (p.S65L) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- von Hippel-Lindau disease
- Source Database
- CIViC Evidence
- Description
- A retrospective study reviewed cases of 23 patients with advanced and complicated VHL eye disease who underwent pars plana vitrectomy in the years 1999 to 2012. These inidiviuals were part of 223 VHL patients consulted at the International Hereditary Cancer Center and Polish VHL Registry. 22/23 patients received genetic molecular testing to identify germline mutations in the VHL gene. 24 eyes from 23 patients were studied. Patient #6 (35 years old) had the p.Ser65Leu (c.194C>T) mutation and a previous history of HbCNS and RCC. Patient # 16 (44 year old) also had this mutation, and had a previous history of HbCNS and RCC. Patient # 17 (20 year old) had this mutation, and had a previous history of HbCNS. Since patients were listed 'by eye' it is impossible to determine whether the three patients listed above actually represent 2 or 3 unique patients.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6710
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1788
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 26308528
Drugs