VHL L101R (c.302T>G)

CI-VAR-00002196Explore in graph →NP_000542.1:p.Leu101ArgNM_000551.3:c.302T>GCIViC 1860

Curated evidence

Evidence by cancer (5 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 1–5 of 5 evidence items across 1 cancer context 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
Von Hippel-Lindau Disease5unmapped disease
VHL L101R (c.302T>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5082 Germline mutation analysis of 469 VHL families reveled 300 mutations. The most common germline mutations were identified between codons 75-82, between codons 157-189 (Elongin binding domain) and at th… (full text at CIViC) PMID 8956040 · Zbar et al., 1996 · Open in CIViC	civic
VHL L101R (c.302T>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5551 Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutation was found in 2 affected family members with hemangioblastomas of the central nervous system (VHL … (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC

ClinVar

Clinical significance (0)

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

Data not yet available

No ClinVar interpretation attached to this variant.