POMGNT1 NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)

CI-VAR-00025885Explore in graph →p.Met623ValNM_017739.4:c.1867A>GClinVar 167524 rs6659553

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
167524	Benign	criteria provided, multiple submitters, no conflicts	2	Muscle eye brain disease; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76; Familial cancer of breast	germline	12	Feb 04, 2026	clinvar