CIViC Compass
Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.
CIViC Variants/L184P (c.551T>C)

L184P (c.551T>C)

CIViC ID: 1776 · Gene: VHL

Variant Summary

Also known as
C.551T>C,LEU184PRO,RS1064793878
HGVS
NM_000551.3:c.551T>C,NP_000542.1:p.Leu184Pro,NC_000003.11:g.10191558T>C,ENST00000256474.2:c.551T>C
Variant Type(s)
missense_variant
Evidence Items
6

Evidence Level Distribution

Level C: 6

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = L184P (c.551T>C).

LevelTypeDirectionSignificanceDiseaseDrugsRating
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease3
CPredisposingVon Hippel-Lindau Disease3
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2
CPredisposingSupportsPredispositionVon Hippel-Lindau Disease2
CDiagnosticSupportsPositiveClear Cell Renal Cell Carcinoma2
CDiagnosticSupportsPositiveRenal Cell Carcinoma1