Variant · Snv
CASR NM_000388.4(CASR):c.738C>T (p.Tyr246=)
CI-VAR-00184883Explore in graph →p.Tyr246=NM_000388.4:c.738C>TClinVar 1077561 rs895337411
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 1077561 | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Hereditary cancer-predisposing syndrome; Epilepsy, idiopathic generalized, susceptibility to, 8; Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Nephrolithiasis/nephrocalcinosis | germline | 4 | Jul 10, 2024 | clinvar |