VHL L129P (c.386T>C)

CI-VAR-00002225Explore in graph →NP_000542.1:p.Leu129ProNM_000551.3:c.386T>CClinVar 625242 CIViC 2508 rs1559428119

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 L129P (c.386T>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5479 26 VHL patients from 18 families, who had undergone a partial adrenalectomy for pheochromocytoma were retrospectively analyzed. 1 patient from a single family was confirmed to have the above mutation.… (full text at CIViC) PMID 20846682 · Benhammou et al., 2010 · Open in CIViC	civic
VHL L129P (c.386T>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6775 This patient was a 10 year old girl who presented with intermittent fever. Further testing found a bilateral pheochromocytoma, pancreatic neuroendocrine tumor, blood pressure level of 160/100mmHg and … (full text at CIViC) PMID 29022557 · Dağdeviren Çakır et al., 2018 · 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
625242	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	2	Dec 11, 2023	clinvar