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| Gene | RET |
| Variant | D378_G385delinsE |
| Impact List | indel |
| Protein Effect | unknown |
| Gene Variant Descriptions | RET D378_G385delinsE results in a deletion of eight amino acids within the extracellular domain of the Ret protein from amino acid 378 to 385, combined with the insertion of a glutamic acid (E) at the same site (UniProt.org). D378_G385delinsE has been identified in the scientific literature (PMID: 32923911), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
RET mutant RET D378_G385delinsE |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43109101_43109121del21 |
| cDNA | c.1134_1154del21 |
| Protein | p.D378_G385delinsE |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_020630.5 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
| NM_020975.6 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
| NM_001406759.1 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
| NM_001406744.1 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
| NM_001406763.1 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
| NM_020975.5 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
| NM_001406765.1 | chr10:g.43109101_43109121del21 | c.1134_1154del21 | p.D378_G385delinsE | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RET D378_G385delinsE | medullary thyroid carcinoma | predicted - sensitive | Selpercatinib | Case Reports/Case Series | Actionable | In a clinical case study, a pediatric patient with heavily pretreated medullary thyroid cancer harboring RET D378_G385delinsE achieved a partial response after 8 weeks of Retevmo (selpercatinib) treatment, with an 86% reduction in tumor size after 40 weeks, and remained progression-free after 27 months (PMID: 32923911; NCT03157128). | 32923911 |
| RET D378_G385delinsE | medullary thyroid carcinoma | predicted - sensitive | Vandetanib | Case Reports/Case Series | Actionable | In a clinical case study, Caprelsa (vandetanib) treatment resulted in an ongoing biochemical response for more than 6 months in a pediatric patient 16 years old with metastatic medullary thyroid carcinoma harboring RET D378_G385delinsE (PMID: 28209747). | 28209747 |