Variant · Snv

VHL G144R (c.430G>A)

CI-VAR-00001646Explore in graph →NP_000542.1:p.Gly144ArgNM_000551.3:c.430G>AClinVar 576437 CIViC 2059 rs869025650

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 G144R (c.430G>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5556 A case report of a woman with VHL presenting with pheochromocytoma at the age of 19 was described. Over 30 years later, the patient still had pheochromocytoma metastases that required treatment. ACMG … (full text at CIViC) PMID 21449869 · Yates et al., 2011 · Open in CIViC	civic
VHL G144R (c.430G>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	1	submitted	EID5856 This paper discusses an Italian patient who is heterozygous for the above mutation and has polycythemia. The probands mother and sister carry the mutation, but do not display symptoms. ACMG evidence c… (full text at CIViC) PMID 15921386 · Randi et al., 2005 · Open in CIViC

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
576437	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Pheochromocytoma; Nonpapillary renal cell carcinoma	germline	5	Oct 08, 2025	clinvar