RHBDF2 NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr)

CI-VAR-00053834Explore in graph →p.Asp499TyrNM_001005498.4:c.1495G>TClinVar 325436 rs11553545

Curated evidence

Evidence by cancer (0 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.

Data not yet available

No curated evidence item references this variant yet.

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
325436	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Palmoplantar keratoderma-esophageal carcinoma syndrome; RHBDF2-related disorder	germline	9	Jan 21, 2026	clinvar