RET C620S
Gene Variant Detail

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Gene RET
Variant C620S
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions RET C620S lies within the extracellular domain of the Ret protein (UniProt.org). C620S 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 C620S

RET mutant RET C620X RET C620S

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Transcript NM_020975.6
gDNA chr10:g.43113654T>A
cDNA c.1858T>A
Protein p.C620S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630.5 chr10:g.43113654T>A c.1858T>A p.C620S RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43113654T>A c.1858T>A p.C620S RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43113654T>A c.1858T>A p.C620S RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43113654T>A c.1858T>A p.C620S RefSeq GRCh38/hg38
NM_020975 chr10:g.43113654T>A c.1858T>A p.C620S RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43113654T>A c.1858T>A p.C620S RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43113654T>A c.1858T>A p.C620S RefSeq GRCh38/hg38
NM_020630 chr10:g.43113654T>A c.1858T>A p.C620S RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43113654T>A c.1858T>A p.C620S RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43113654T>A c.1858T>A p.C620S RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43113654T>A c.1858T>A p.C620S RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43113654T>A c.1858T>A p.C620S 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 C620S 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 C620S; ORR was 73% (64/88) in treatment naive patients (PMID: 32846061; NCT03157128). detail... detail... 32846061