TWNK NM_021830.5(TWNK):c.241C>G (p.Leu81Val)

CI-VAR-00049544Explore in graph →p.Leu81ValNM_021830.5:c.241C>GClinVar 279715 rs145068570

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
279715	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Infantile onset spinocerebellar ataxia; Autosomal recessive cerebellar ataxia; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; Hereditary spastic paraplegia; Clear cell carcinoma of kidney	germline	8	Aug 06, 2026	clinvar