Variant · Snv

VHL T124I (c.371C>T)

CI-VAR-00004264Explore in graph →NP_000542.1:p.Thr124IleNM_000551.3:c.371C>TClinVar 36902 CIViC 2054 rs193922610

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 Disease4unmapped disease
VHL T124I (c.371C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5541 Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutation was found in a VHL type 2C patient with pheochromocytomas (VHL family 10). This patient's phenoty… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · Open in CIViC	civic
VHL T124I (c.371C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5803 Genetic analysis of 27 patients with urinary bladder paragangliomas, revealed 17 germline mutations, three of which were in the VHL gene. This missense mutation was found in a 6-year-old male (patient… (full text at CIViC) PMID 25683602 · Martucci et al., 2015 · Open in CIViC

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
36902	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma; Nonpapillary renal cell carcinoma; Hereditary cancer-predisposing syndrome	germline	6	Aug 07, 2025