RET C634G
Gene Variant Detail

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Gene RET
Variant C634G
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions RET C634G lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C634G is transforming in cell culture (PMID: 9230192), and therefore, is predicted to lead to a gain of Ret protein function.
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C634G

RET mutant RET C634X RET C634G

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Transcript NM_020975.6
gDNA chr10:g.43114500T>G
cDNA c.1900T>G
Protein p.C634G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975.6 chr10:g.43114500T>G c.1900T>G p.C634G RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114500T>G c.1900T>G p.C634G RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114500T>G c.1900T>G p.C634G RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114500T>G c.1900T>G p.C634G RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114500T>G c.1900T>G p.C634G RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114500T>G c.1900T>G p.C634G RefSeq GRCh38/hg38
NM_001406786.1 chr10:g.43123795T>G c.1900T>G p.C634G RefSeq GRCh38/hg38
NM_001406783.1 chr10:g.43123795T>G c.1900T>G p.C634G RefSeq GRCh38/hg38
NM_020630 chr10:g.43114500T>G c.1900T>G p.C634G RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114500T>G c.1900T>G p.C634G RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114500T>G c.1900T>G p.C634G RefSeq GRCh38/hg38
NM_020975 chr10:g.43114500T>G c.1900T>G p.C634G RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET C634G 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 C634G; ORR was 73% (64/88) in treatment naive patients (PMID: 32846061; NCT03157128). 32846061 detail... detail...