VHL P103L (c.308C>T)

CI-VAR-00003265Explore in graph →NP_000542.1:p.Pro103LeuNM_000551.3:c.308C>TCIViC 2118

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 P103L (c.308C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5704 This study analyzed a cohort of Norweigan pheochromocytoma patients for pathogenic germline variants. Blood samples from 42 patients were successfully analyzed for VHL, RET, SDHB, SDHC, SDHD and NF1. … (full text at CIViC) PMID 23407919 · Sjursen et al., 2013 · Open in CIViC	civic
VHL P103L (c.308C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10873 The medical records of 78 Korean patients with pheochromocytoma (PCC) and paragangliomas (PGL) were examined, 61 patients were diagnosed with PCC and the other 17 patients with PGL. 57 patients were i… (full text at CIViC) PMID 33397040 · Choi et al., 2020 · 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.