RAG1 NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)

CI-VAR-00006182Explore in graph →p.Cys328TyrNM_000448.3:c.983G>AClinVar 13160 rs121918571

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
13160	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Histiocytic medullary reticulosis; Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Combined immunodeficiency due to partial RAG1 deficiency; Tumor predisposition syndrome 3; Severe combined immunodeficiency disease	germline	7	Oct 26, 2025	clinvar