VHL P81S (c.241C>T) and L188V (c.562C>G)

CI-VAR-00003412Explore in graph →CIViC 3298

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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 Disease2unmapped disease
VHL P81S (c.241C>T) and L188V (c.562C>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5538 Study of a German family of 16 family members with cosegregation of the pheochromocytoma-only phenotype with two concurrent germline mutations in the VHL protein alpha and beta domains. These mutation… (full text at CIViC) PMID 12414898 · Weirich et al., 2002 · Open in CIViC	civic
VHL P81S (c.241C>T) and L188V (c.562C>G)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID9210 Of 246 patients affected with von Hippel-Lindau disease, 64 patients (26%) from 38 families had pheochromocytoma, including 33 newly diagnosed during screening studies and 31 treated before screening … (full text at CIViC) PMID 10458336 · Walther et al., 1999 · 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.