Variant · Snv
USH1C NM_153676.4(USH1C):c.2487C>T (p.Gly829=)
CI-VAR-00102053Explore in graph →p.Gly829=NM_153676.4:c.2487C>TClinVar 557049 rs142801489
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 |
|---|---|---|---|---|---|---|---|---|
| 557049 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A; Gastric cancer; Malignant tumor of esophagus | germline | 6 | Feb 01, 2026 | clinvar |