COL3A1 NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)

CI-VAR-00071813Explore in graph →p.Gly396=NM_000090.4:c.1188C>TClinVar 450335 rs745743884

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
450335	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome; COL3A1-related disorder; Melanoma; Lung cancer	germline	15	Jun 01, 2026	clinvar