CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/L178P (c.533T>C)

L178P (c.533T>C)

CIViC ID: 1748 · Gene: VHL

Variant Summary

Also known as
C.533T>C,LEU178PRO,RS5030822
HGVS
ENST00000256474.2:c.533T>C,NM_000551.3:c.533T>C,NP_000542.1:p.Leu178Pro,NC_000003.11:g.10191540T>C
Variant Type(s)
missense_variant
Evidence Items
7

Evidence Level Distribution

Level C: 7

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = L178P (c.533T>C).

LevelTypeDirectionSignificanceDiseaseDrugsRating
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease4
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsUncertain SignificanceVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2
CPredisposingSupportsUncertain SignificanceVon Hippel-Lindau Disease2