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| Gene | RET |
| Variant | E623_L633del |
| Impact List | deletion |
| Protein Effect | unknown |
| Gene Variant Descriptions | RET E623_L633del results in the deletion of 11 amino acids in the extracellular domain of the Ret protein from amino acids 623 to 633 (UniProt.org). E623_L633del has not been characterized in the scientific literature and therefore, its effect on Ret protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
RET mutant RET E623_L633del |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43113663_43114499del837 |
| cDNA | c.1867_1899del837 |
| Protein | p.E623_L633del |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_020975.6 | chr10:g.43113663_43114499del837 | c.1867_1899del837 | p.E623_L633del | RefSeq | GRCh38/hg38 |
| NM_020975 | chr10:g.43113663_43114499del837 | c.1867_1899del837 | p.E623_L633del | RefSeq | GRCh38/hg38 |
| NM_020630.5 | chr10:g.43113663_43114499del837 | c.1867_1899del837 | p.E623_L633del | RefSeq | GRCh38/hg38 |
| NM_001406759.1 | chr10:g.43113663_43114499del837 | c.1867_1899del837 | p.E623_L633del | RefSeq | GRCh38/hg38 |
| NM_001406744.1 | chr10:g.43113663_43114499del837 | c.1867_1899del837 | p.E623_L633del | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43113663_43114499del837 | c.1867_1899del837 | p.E623_L633del | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43113663_43114499del837 | c.1867_1899del837 | p.E623_L633del | RefSeq | GRCh38/hg38 |
| NM_020975.5 | chr10:g.43113663_43114499del837 | c.1867_1899del837 | p.E623_L633del | RefSeq | GRCh38/hg38 |
| NM_020630 | chr10:g.43113663_43114499del837 | c.1867_1899del837 | p.E623_L633del | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43113663_43114499del837 | c.1867_1899del837 | p.E623_L633del | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RET E623_L633del | medullary thyroid carcinoma | sensitive | Selpercatinib | FDA approved - On Companion Diagnostic | Actionable | In a Phase I/II trial (LIBRETTO-001) that supported FDA approval, Retevmo (selpercatinib) treatment resulted in an objective response rate (ORR) of 69% (38/55, 5 complete and 33 partial responses) in previously treated adult and pediatric patients of 12 years and older with medullary thyroid cancer harboring RET mutations as detected by an approved test, including RET E623_L633del; ORR was 73% (64/88) in treatment naive patients (PMID: 32846061; NCT03157128). | detail... detail... 32846061 |