POMT2 NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp)

CI-VAR-00053645Explore in graph →p.Arg551TrpNM_013382.7:c.1651C>TClinVar 314554 rs751153662

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
314554	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Autosomal recessive limb-girdle muscular dystrophy type 2N; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Hepatocellular carcinoma	germline	5	Oct 28, 2024	clinvar