Variant · Snv
POMGNT1 NM_017739.4(POMGNT1):c.421-7C>A
CI-VAR-00031839Explore in graph →NM_017739.4:c.421-7C>AClinVar 198222 rs189274856
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.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 198222 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Autosomal recessive limb-girdle muscular dystrophy type 2O; Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscle eye brain disease; POMGNT1-related disorder; Ovarian serous cystadenocarcinoma; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Lung cancer | germline | 12 | Feb 04, 2026 | clinvar |