Variant · Snv
SYNE1 NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)
CI-VAR-00031650Explore in graph →p.Arg7772GlnNM_182961.4:c.23315G>AClinVar 194147 rs138787771
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 |
|---|---|---|---|---|---|---|---|---|
| 194147 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Autosomal recessive ataxia, Beauce type; SYNE1-related disorder; Malignant tumor of esophagus; Adrenocortical carcinoma, hereditary; Familial cancer of breast; Uveal melanoma; Colorectal cancer; Sarcoma; Gastric cancer; Thyroid cancer, nonmedullary, 1; Acute myeloid leukemia; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma; Melanoma | germline | 14 | Jun 01, 2026 | clinvar |