VHL S139C (c.416C>G)

CI-VAR-00003991Explore in graph →CIViC 5044

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL Exon 3 Deletion AND VHL S139C (c.416C>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10867 A 9-year-and-5-month old male patient was diagnosed with polyglobulia after an accident at 8 years of age. Proband's mother reported that the patient displayed fatigue and peripheral cyanosis during e… (full text at CIViC) PMID 33938902 · Núñez-Martínez et al., 2021 · Open in CIViC	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.