ANO5 NM_213599.3(ANO5):c.692G>T (p.Gly231Val)

CI-VAR-00005261Explore in graph →p.Gly231ValNM_213599.3:c.692G>TClinVar 2165 rs137854523

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
2165	Likely pathogenic	reviewed by expert panel	3	Autosomal recessive limb-girdle muscular dystrophy type 2L; ANO5-related disorder; Gnathodiaphyseal dysplasia; Miyoshi muscular dystrophy 3; Hereditary fructosuria; Autosomal recessive limb-girdle muscular dystrophy; Acute rhabdomyolysis; Ovarian serous cystadenocarcinoma; Nonpapillary renal cell carcinoma	germline	34	Feb 24, 2026	clinvar