VHL Q164H (c.492G>C)

CI-VAR-00003501Explore in graph →ENST00000256474.2:c.492G>CCIViC 1943

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 Q164H (c.492G>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5234 74 patients with pheochromoctyoma were first analyzed by denaturing high performance liquid chromatography, and those showing variance were sequenced. 1 patient was found with the above mutation. ACMG… (full text at CIViC) PMID 19215943 · Meyer-Rochow et al., 2009 · Open in CIViC	civic
VHL Q164H (c.492G>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5565 Frequency of VHL, RET, SDHD, SDHC, and SDHB germline mutations in 21 patients clinically classified as having apparently sporadic pheochromocytomas or paragangliomas was assessed. Germline variations … (full text at CIViC) PMID 12807974 · Bauters 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.