Variant · Snv
MFN2 NM_014874.4(MFN2):c.957C>T (p.Gly319=)
CI-VAR-00022439Explore in graph →p.Gly319=NM_014874.4:c.957C>TClinVar 138212 rs41278632
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 138212 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Charcot-Marie-Tooth disease type 2; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease; Clear cell carcinoma of kidney; Colon adenocarcinoma; Uterine carcinosarcoma; Thyroid cancer, nonmedullary, 1; Uterine corpus endometrial carcinoma; Uveal melanoma; Thymoma; Melanoma; Colorectal cancer; Cervical cancer; Sarcoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Acute myeloid leukemia; Hepatocellular carcinoma; Malignant tumor of esophagus; Lung cancer | germline | 12 | Jun 01, 2026 | clinvar |