GAA NM_000152.5(GAA):c.546G>A (p.Thr182=)

CI-VAR-00049618Explore in graph →p.Thr182=NM_000152.5:c.546G>AClinVar 280955 rs143523371

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
280955	Pathogenic	reviewed by expert panel	3	Glycogen storage disease, type II; GAA-related disorder; Glycogen storage disease; Clear cell carcinoma of kidney; GAA-related disorders	germline	21	Jul 18, 2023	clinvar