VHL L184H (c.551T>A)

CI-VAR-00002283Explore in graph →NP_000542.1:p.Leu184HisNM_000551.3:c.551T>ACIViC 2070

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL L184H (c.551T>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5590 Molecular and clinical analysis of 126 French VHL families tested for renal involvement revealed 92 different mutations and 71% of the families had renal involvement. This missense mutation was found … (full text at CIViC) PMID 15300849 · Gallou et al., 2004 · Open in CIViC	civic
VHL L184H (c.551T>A)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8713 A cohort of 314 patients with pheochromocytoma and functional paraganglioma had blood samples collected and all five major pheo-pgl susceptibility genes (RET, VHL, SDHB, SDHD, and SDHC) were screened … (full text at CIViC) PMID 16314641 · Amar et al., 2005 · 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.