COL5A1 NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val)

CI-VAR-00033233Explore in graph →p.Glu863ValNM_000093.5:c.2588A>TClinVar 213044 rs139788610

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
213044	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome; Familial thoracic aortic aneurysm and aortic dissection; COL5A1-related disorder; Familial cancer of breast; Thyroid cancer, nonmedullary, 1	germline	10	Jan 27, 2026	clinvar