Variant · Snv
TSHR NM_000369.5(TSHR):c.1349G>A (p.Arg450His)
CI-VAR-00037197Explore in graph →p.Arg450HisNM_000369.5:c.1349G>AClinVar 225505 rs189261858
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 |
|---|---|---|---|---|---|---|---|---|
| 225505 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Hypothyroidism due to TSH receptor mutations; Congenital hypothyroidism; Familial gestational hyperthyroidism; Ovarian cancer; Familial hyperthyroidism due to mutations in TSH receptor; TSHR-related disorder | germline | 15 | Jun 19, 2026 | clinvar |