Variant · Deletion
RET E632_L633del
CI-VAR-00000804Explore in graph →NP_066124.1:p.Glu632_Leu633delNM_020975.6:c.1894_1899delClinVar 376313 CIViC 4785 rs121913312
Curated evidence
Evidence by cancer (10 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
- 9191060
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Neoplasm6 | ||||||||
| RET E632_L633del | (oncogenic) | Oncogenic | D | Supports Oncogenicity | 3 | accepted | EID11873A RET c.1894_1899del p.E632_L633del mutation was identified in a 32-year-old patient with a particularly aggressive medullary thyroid cancer. This mutation removes 2 amino acids adjacent to the cyste… (full text at CIViC) PMID 9191060 · Ceccherini et al., 1997 · Open in CIViC | civic |
| RET E632_L633del | (oncogenic) | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12713Exogenous expression of RET E632_L633del transformed Ba/F3 cells, causing interleukin-3 independent proliferation. This proliferation was abolished with various RET inhibitors. PMID 37376747 · Szymczak et al., 2023 · Open in CIViC | civic |
| RET E632_L633del | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|
| 376313 | Uncertain significance | criteria provided, single submitter | 1 | Multiple endocrine neoplasia, type 2 | germline | 1 | Oct 16, 2019 | clinvar |