LARGE1 NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala)

CI-VAR-00053700Explore in graph →p.Thr55AlaNM_133642.5:c.163A>GClinVar 341438 rs34642406

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
341438	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6; Muscular dystrophy-dystroglycanopathy type B6; Lung cancer	germline	8	Feb 04, 2026	clinvar