VHL P138= (c.414A>G)

CI-VAR-00003272Explore in graph →CIViC 2866

Curated evidence

Evidence by cancer (7 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 1–7 of 7 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 Disease7unmapped disease
VHL P138= (c.414A>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID7713 The proband was diagnosed with a normetanephrine-secreting 5cm right pheochromocytoma at age 32. She was found to harbour the hetrozygous germline c.414A>G mutation in VHL through whole exome sequenci… (full text at CIViC) PMID 30946460 · Flores et al., 2019 · Open in CIViC	civic
VHL P138= (c.414A>G)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8828 A study investigated paraganglioma/pheochromocytoma tumors in a retrospective cohort and a prospective cohort. Some of these tumors were found with germline VHL mutations. Tumour ID 85 was PCC and a g… (full text at CIViC) PMID 31383958 · Favier et al., 2020 · 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.