DYSF NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val)

CI-VAR-00049682Explore in graph →p.Ala716ValNM_001130987.2:c.2147C>TClinVar 283228 rs145007061

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
283228	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin; Autosomal recessive limb-girdle muscular dystrophy type 2B; Cervical cancer	germline	7	Jan 31, 2026	clinvar