VHL T152I (c.455C>T)

CI-VAR-00004275Explore in graph →NP_000542.1:p.Thr152IleNM_000551.3:c.455C>TCIViC 2085

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 T152I (c.455C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5632 79 patients with head and neck paragangliomas were analyzed for SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, MAX, and TMEM127 genes by PCR/sequencing. 1 patient was found to have the above mutation, and prese… (full text at CIViC) PMID 22241717 · Piccini et al., 2012 · Open in CIViC	civic
VHL T152I (c.455C>T)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8814 A case report of two patients with novel point mutations in the VHL gene was described. A 24-year-old female proband (patient #2) was found with a missense VHL germline mutation (c.455C>T) affected by… (full text at CIViC) PMID 18031321 · Ercolino et al., 2008 · Open in 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.