POMGNT1 NM_017739.4(POMGNT1):c.1539+1G>A

CI-VAR-00013737Explore in graph →NM_017739.4:c.1539+1G>AClinVar 56582 rs138642840

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
56582	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Muscle eye brain disease; POMGNT1-related disorder; Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Retinitis pigmentosa 76; Autosomal recessive limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Myopathy caused by variation in POMGNT1; Muscular dystrophy-dystroglycanopathy; Retinal dystrophy; Autosomal recessive POMGNT1-related disorders; Malignant tumor of esophagus; Cervical cancer	germline	29	Jan 17, 2026	clinvar