Variant · Snv
MYOD1 L122R
CI-VAR-00002216Explore in graph →NP_002469.2:p.Leu122ArgNM_002478.5:c.365T>GClinVar 4530455 CIViC 3032
Curated evidence
Evidence by cancer (12 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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 34166060
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Rhabdomyosarcoma1 | ||||||||
| MYOD1 L122R | (prognostic) | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID9532This study evaluated 641 cases of rhabdomyosarcoma (RMS), enrolled on Children’s Oncology Group trials (1998-2017) and UK malignant mesenchymal tumor and RMS2005 trials (1995-2016), for mutations in 3… (full text at CIViC) PMID 34166060 · Shern et al., 2021 · Open in CIViC | civic |
| Spindle Cell Rhabdomyosarcoma10 | ||||||||
| MYOD1 L122R | (diagnostic) | Diagnostic | B | Supports Positive | 4 | accepted | EID8193This study evaluated forty-nine cases of rhabdomyosarcoma (RMS) (17 cases of alveolar RMS, 10 of embryonal RMS, 21 of spindle cell and sclerosing RMS, and a single case of a pleomorphic RMS) for MYOD1… (full text at CIViC) PMID 27562493 · | |
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- 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 |
|---|---|---|---|---|---|---|---|---|
| 4530455 | - | - | — | Rhabdomyosarcoma; Spindle cell rhabdomyosarcoma | somatic | 2 | — | clinvar |