COL7A1 NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)

CI-VAR-00070218Explore in graph →p.Pro1940=NM_000094.4:c.5820G>AClinVar 431810 rs200972872

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
431810	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant; Epidermolysis bullosa dystrophica; Recessive dystrophic epidermolysis bullosa; COL7A1-related disorder; Familial cancer of breast	germline	12	Jan 09, 2026	clinvar