Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.

CIViC Variants/S65L (c.194C>T)

S65L (c.194C>T)

CIViC ID: 1788 · Gene: VHL

Variant Summary

Also known as: C.194C>T,SER65LEU,RS5030826
HGVS: NM_000551.3:c.194C>T,NP_000542.1:p.Ser65Leu,NC_000003.11:g.10183725C>T,ENST00000256474.2:c.194C>T
Variant Type(s): missense_variant
Evidence Items: 13

Evidence Level Distribution

Level C: 13

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = S65L (c.194C>T).

Level	Type	Direction	Significance	Disease	Drugs	Rating
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		2
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		2
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		2
C	Predisposing			Von Hippel-Lindau Disease		2
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		2
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		2
C	Oncogenic	Supports	Oncogenicity	Clear Cell Renal Cell Carcinoma		1
C	Oncogenic	Supports	Oncogenicity	Renal Carcinoma		1