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| Gene | RET |
| Variant | C630G |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | RET C630G lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C630G has been identified in the scientific literature (PMID: 32031055, PMID: 35470851), 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 C630X RET C630G |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43114488T>G |
| cDNA | c.1888T>G |
| Protein | p.C630G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_020975 | chr10:g.43114488T>G | c.1888T>G | p.C630G | RefSeq | GRCh38/hg38 |
| NM_020975.5 | chr10:g.43114488T>G | c.1888T>G | p.C630G | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43114488T>G | c.1888T>G | p.C630G | RefSeq | GRCh38/hg38 |
| NM_020975.6 | chr10:g.43114488T>G | c.1888T>G | p.C630G | RefSeq | GRCh38/hg38 |
| NM_020630.5 | chr10:g.43114488T>G | c.1888T>G | p.C630G | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43114488T>G | c.1888T>G | p.C630G | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43114488T>G | c.1888T>G | p.C630G | RefSeq | GRCh38/hg38 |
| NM_001406759.1 | chr10:g.43114488T>G | c.1888T>G | p.C630G | RefSeq | GRCh38/hg38 |
| NM_020630 | chr10:g.43114488T>G | c.1888T>G | p.C630G | RefSeq | GRCh38/hg38 |
| NM_001406744.1 | chr10:g.43114488T>G | c.1888T>G | p.C630G | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RET C630G | 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 C630G; ORR was 73% (64/88) in treatment naive patients (PMID: 32846061; NCT03157128). | 32846061 detail... detail... |