ERCC2 NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)

CI-VAR-00047890Explore in graph →p.Arg683GlnNM_000400.4:c.2048G>AClinVar 264679 rs758439420

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
264679	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal syndrome 2; Inflammatory bowel disease 1; ERCC2-related disorder	germline	8	Sep 10, 2025	clinvar