POMT1 NM_001077365.2(POMT1):c.1248G>T (p.Met416Ile)

CI-VAR-00277176Explore in graph →p.Met416IleNM_001077365.2:c.1248G>TClinVar 1926539 rs1417849652

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
1926539	Uncertain significance	criteria provided, single submitter	1	Walker-Warburg congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Autosomal recessive limb-girdle muscular dystrophy type 2K; Melanoma	germline	2	Aug 19, 2022	clinvar