VHL D126N (c.376G>A)

CI-VAR-00000417Explore in graph →NP_000542.1:p.Asp126AsnNM_000551.3:c.376G>AClinVar 141044 CIViC 2533 rs104893831

Curated evidence

Evidence by cancer (5 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 1–5 of 5 evidence items across 2 cancer contexts 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
Polycythemia Vera1
VHL D126N (c.376G>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6856 A case report revealed a 7 month old male infant of Bangladesh ethnicity with a novel homozygous VHL germline missense (c.376G>A; p.Asp126Asn) mutation with congenital polycythemia and dramatically el… (full text at CIViC) PMID 24729484 · Sarangi et al., 2014 · Open in CIViC	civic
Von Hippel-Lindau Disease4unmapped disease
VHL D126N (c.376G>A)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8541 112 unrelated patients with pheochromocytoma or paraganglioma were screened for mutations in the VHL gene, as well as the SDHx gene. Mutation analysis was performed on patient blood samples: DNA was e… (full text at CIViC) PMID 22566194 ·

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
141044	Uncertain significance	reviewed by expert panel	3	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash polycythemia; Inherited phaeochromocytoma and paraganglioma excluding NF1	germline/somatic	14	Jun 25, 2024	clinvar