DYSF NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)

CI-VAR-00031794Explore in graph →p.Val1543=NM_001130987.2:c.4629C>GClinVar 197463 rs142483266

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
197463	Likely benign	reviewed by expert panel	3	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin; Autosomal recessive limb-girdle muscular dystrophy type 2B; Colorectal cancer; Gastric cancer; Hepatocellular carcinoma; Familial cancer of breast; Autosomal recessive limb-girdle muscular dystrophy	germline	11	Jan 09, 2025	clinvar