VHL L85P (c.254T>C)

CI-VAR-00002437Explore in graph →NP_000542.1:p.Leu85ProNM_000551.3:c.254T>CClinVar 376222 CIViC 2020 rs5030828

Curated evidence

Evidence by cancer (6 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 1–6 of 6 evidence items across 3 cancer contexts 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
Clear Cell Renal Cell Carcinoma1
VHL L85P (c.254T>C)	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	submitted	EID6135 This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC	civic
Renal Cell Carcinoma1
VHL L85P (c.254T>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6023 In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 ·

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
376222	Uncertain significance	criteria provided, single submitter	1	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	1	Feb 17, 2021	clinvar

Von Hippel-Lindau Disease4unmapped disease
VHL L85P (c.254T>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5431 43 unrelated VHL patients with previously sequenced VHL germline mutations and 36 suspected VHL mutation carriers were subject to denaturing high performance liquid chromatography (DHPLC) mutation scr… (full text at CIViC) PMID 11409863 · Klein et al., 2001 · Open in CIViC	civic
VHL L85P (c.254T>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6800 A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · Open in CIViC	civic
VHL L85P (c.254T>C)	(predisposing)	Predisposing	C	N/A N/A	1	submitted	EID8953 A 40Y F presented with weight loss, epigastric pain and multiple pancreatic cystic lesions. VHL L85P (c.254T>C) was found. The patient had no personal or family medical history. PMID 20118737 · Neuzillet et al., 2010 · Open in CIViC	civic
VHL L85P (c.254T>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10981 216 patients with clinically expected VHL disease due to family history or presence of VHL typical tumours were routinely examined in an eye centre in Germany between January 2019 and January 2020, ma… (full text at CIViC) PMID 33720516 · Reich et al., 2021 · Open in CIViC	civic