VHL L169P - Gene Variant Detail

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Gene VHL
Variant L169P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL L169P does not lie within any known functional domains of the Vhl protein (UniProt.org). L169P retains the ability to degrade Hif1a and results in hypoxia regulation and protein stability similar to wild-type Vhl in culture in one study (PMID: 37069149), but results in a HIF-dependent growth defect similar to VHL loss in a high-throughput cell culture assay in another study (PMID: 38969834), and therefore, its effect on Vhl protein function is unknown.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL L169P

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Transcript NM_000551.4
gDNA chr3:g.10149829T>C
cDNA c.506T>C
Protein p.L169P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10149829T>C c.506T>C p.L169P RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10149829T>C c.506T>C p.L169P RefSeq GRCh38/hg38
NM_000551 chr3:g.10149829T>C c.506T>C p.L169P RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
VHL mutant islet cell tumor sensitive Belzutifan Guideline Actionable Welireg (belzutifan) is included in guidelines for patients with well-differentiated Grade 1/2 progressive pancreatic neuroendocrine tumors harboring germline VHL mutations (NCCN.org). detail...
VHL mutant renal cell carcinoma sensitive Everolimus Phase I Actionable In a Phase I study, Afinitor (everolimus), as compared to Apitolisib (GDC-0980), resulted in a greater progression free survival and overall survival in patients with renal cell carcinoma harboring VHL mutations (J Clin Oncol 32:5s, 2014 (suppl; abstr 4525)). detail...
VHL mutant renal cell carcinoma predicted - sensitive Sunitinib Phase I Actionable In a Phase I trial, 33% (6/18) of renal cell carcinoma patients harboring a VHL mutation, as determined from archived patient specimens, demonstrated a partial response when treated with Sutent (sunitinib) (PMID: 22105611). 22105611
VHL mutant renal cell carcinoma no benefit Unspecified VEGFR inhibitor Clinical Study - Meta-analysis Actionable In a meta-analysis of 6 clinical studies, VHL mutation status was not associated with overall response rate (relative risk=1.47, p=0.20), progression-free survival (HR=1.02, p=0.91), or overall survival (HR=0.80, p=0.21) in a total of 633 patients with renal cell carcinoma who received anti-VEGF therapies (PMID: 28103578). 28103578