VHL P138L (c.413C>T)

CI-VAR-00003273Explore in graph →NP_000542.1:p.Pro138LeuNM_000551.3:c.413C>TCIViC 2120 rs780178275

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL P138L (c.413C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5708 A case report of a 15-year-old Indian (Punjabi ethnicity) who has had polycythemia from infancy is described. Genetic screening identified the above mutation in a homozygous state. No VHL-related tumo… (full text at CIViC) PMID 23538339 · Lanikova et al., 2013 · Open in CIViC	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.