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

CIViC Variants/Y98H (c.292T>C)

Y98H (c.292T>C)

CIViC ID: 1741 · Gene: VHL

Variant Summary

Also known as: C.292T>C,TYR98HIS,RS5030809
HGVS: NM_000551.3:c.292T>C,NP_000542.1:p.Tyr98His,NC_000003.11:g.10183823T>C,ENST00000256474.2:c.292T>C
Variant Type(s): missense_variant
Evidence Items: 9

Evidence Level Distribution

Level B: 1Level C: 8

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = Y98H (c.292T>C).

Level	Type	Direction	Significance	Disease	Drugs	Rating
B	Predisposing			Von Hippel-Lindau Disease		4
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	Uncertain Significance	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	Supports	Predisposition	Von Hippel-Lindau Disease		2
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		2