ERCC2 NM_000400.4(ERCC2):c.1248C>G (p.Ile416Met)

CI-VAR-00346169Explore in graph →p.Ile416MetNM_000400.4:c.1248C>GClinVar 3231628 rs1972060367

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
3231628	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Inborn genetic diseases; Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive	germline	2	Oct 24, 2025	clinvar