VHL L184P (c.551T>C)

CI-VAR-00002284Explore in graph →NP_000542.1:p.Leu184ProNM_000551.3:c.551T>CClinVar 419447 CIViC 1776 rs1064793878

Curated evidence

Evidence by cancer (6 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–6 of 6 evidence items across 3 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Clear Cell Renal Cell Carcinoma1
VHL L184P (c.551T>C)	(diagnostic)	Diagnostic	C	Supports Positive	2	accepted	EID6167 195 patients with sporadic clear cell renal cell carcinoma (sporadic CCRCC) were investigated for variants in the VHL gene, in order to determine the possible relationship between VHL mutations in CCR… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC	civic
Renal Cell Carcinoma1
VHL L184P (c.551T>C)	(diagnostic)	Diagnostic	C	Supports Positive	1	accepted	EID6027 In a study of 31 kidney tumors from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues wit… (full text at CIViC) PMID 7591282 ·

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
419447	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	4	Jul 31, 2024	clinvar

Von Hippel-Lindau Disease4unmapped disease
VHL L184P (c.551T>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID4943 In a study of 114 unrelated VHL affected families, germline mutations in the VHL gene were identified in 85 of the families. VHL mutations were detected in affected family members, but not in unaffect… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC	civic
VHL L184P (c.551T>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5055 93 families that fulfilled the clinical criteria of VHL disease were assessed for germline mutations in the VHL gene, and mutations were found in all affected family members. The c.551T>C (p.L184P) mu… (full text at CIViC) PMID 9829911 · Stolle et al., 1998 · Open in CIViC	civic
VHL L184P (c.551T>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID6119 Thirty-five unrelated patients suspected of having von Hippel-Lindau disease had genomic DNA from peripheral blood leukocytes analyzed using sequence analysis of the coding region for VHL / Southern b… (full text at CIViC) PMID 14722919 · Ruiz-Llorente et al., 2004 · Open in CIViC	civic
VHL L184P (c.551T>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID8491 Of 14 patients with retinal vascular proliferation and known family history of VHL disease, 12 patients were enrolled in an approved study protocol at the National Cancer Institute. 11 of these patien… (full text at CIViC) PMID 18474773 · Wong et al., 2008 · Open in CIViC	civic