VHL M54I (c.162G>C)

CI-VAR-00002598Explore in graph →NP_000542.1:p.Met54IleNM_000551.3:c.162G>CCIViC 2177

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 M54I (c.162G>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5857 A report on 3 Moroccan individuals suffering from polycythemia. The above mutation was found in all patients in a homozygous state. 2 patients were from the same family. ACMG evidence codes: 'PP2' bec… (full text at CIViC) PMID 26224408 · Bartels et al., 2015 · Open in CIViC	civic
VHL M54I (c.162G>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6701 A case study revealed an 11-year-old boy born from Berber Moroccan that was referred to a children’s hospital for repetitive exercise–induced syncope. He was found to have a homozygous c.162C>G mutati… (full text at CIViC) PMID 27578599 · Caravita et al., 2016 · 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.