RET C634S
Gene Variant Detail

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Gene RET
Variant C634S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET C634S lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C634S confers a gain of function on the Ret protein as demonstrated by constitutive phosphorylation of Mapk and transformation of cultured cells (PMID: 15277225, PMID: 9230192).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C634S

RET mutant RET C634X RET C634S

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Transcript NM_020975.6
gDNA chr10:g.43114500T>A
cDNA c.1900T>A
Protein p.C634S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975.5 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_020630 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_001406783.1 chr10:g.43123795T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114500T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_001406786.1 chr10:g.43123795T>A c.1900T>A p.C634S RefSeq GRCh38/hg38
NM_020975 chr10:g.43114500T>A c.1900T>A p.C634S 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 C634S 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 C634S; ORR was 73% (64/88) in treatment naive patients (PMID: 32846061; NCT03157128). 32846061 detail... detail...