POMT1 NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser)

CI-VAR-00049825Explore in graph →p.Asn233SerNM_001077365.2:c.698A>GClinVar 288930 rs139774354

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
288930	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy; Inborn genetic diseases; Colon adenocarcinoma; Melanoma	germline	4	Dec 12, 2023	clinvar