GBA1 NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)

CI-VAR-00005405Explore in graph →p.Arg159GlnNM_000157.4:c.476G>AClinVar 4291 rs79653797

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
4291	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Gaucher disease perinatal lethal; Gaucher disease type I; Gaucher disease; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher disease type II; Gaucher disease type III; Melanoma	germline	12	Jan 14, 2026	clinvar