POMGNT1 NM_017739.4(POMGNT1):c.1152+2T>C

CI-VAR-00101782Explore in graph →NM_017739.4:c.1152+2T>CClinVar 558053 rs1553163335

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
558053	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Autosomal recessive limb-girdle muscular dystrophy type 2O; Gastric cancer	germline	6	Feb 03, 2025	clinvar