VHL H191D (c.571C>G)

CI-VAR-00001910Explore in graph →NP_000542.1:p.His191AspNM_000551.3:c.571C>GClinVar 2235 CIViC 2425 rs28940301

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 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
Polycythemia Vera1
VHL H191D (c.571C>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6485 A 12 year old white male child presented with polycythemia. Genetic testing confirmed a germline missense mutation found at c.571C>G (p.His191Asp) in the VHL gene. This is the only other case of a hom… (full text at CIViC) PMID 16617601 · Hajnzić et al., 2006 · Open in CIViC	civic
Polycythemia1unmapped disease
VHL H191D (c.571C>G)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8251 2 Croatian polycythemia patients with inherited homozygous VHL H191D mutation were reported. 23 members of the families related to the two propositi were screened and 10 heterozygous carriers of this … (full text at CIViC) PMID 23403324 ·

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
2235	Likely pathogenic	criteria provided, single submitter	1	Chuvash polycythemia; Von Hippel-Lindau syndrome	germline	2	Jun 21, 2020	clinvar

Von Hippel-Lindau Disease1unmapped disease
VHL H191D (c.571C>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6649 DNA samples extracted from the blood of patients with idiopathic erythrocytosis were acquired from four separate idiopathic erythrocytosis databases (UK, Portugal, Germany and The Netherlands). Geneti… (full text at CIViC) PMID 27651169 · Camps et al., 2016 · Open in CIViC	civic