Gene Variant Detail

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Gene RET
Variant C620R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET C620R lies within the extracellular domain of the Ret protein (PMID: 9230192). C620R results in decreased cell surface Ret expression, but also results in increased Ret and Shc phosphorylation, activation of transcription in a reporter assay, transformation in cell culture (PMID: 9879991, PMID: 9230192), increased Erk phosphorylation and IL3-independent growth in culture (PMID: 36166639).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C620R

RET mutant RET C620X RET C620R

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Transcript NM_020975.6
gDNA chr10:g.43113654T>C
cDNA c.1858T>C
Protein p.C620R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630.7 chr10:g.43113654T>C c.1858T>C p.C620R RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43113654T>C c.1858T>C p.C620R RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43113654T>C c.1858T>C p.C620R RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43113654T>C c.1858T>C p.C620R RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43113654T>C c.1858T>C p.C620R RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43113654T>C c.1858T>C p.C620R RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43113654T>C c.1858T>C p.C620R RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43113654T>C c.1858T>C p.C620R RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43113654T>C c.1858T>C p.C620R RefSeq GRCh38/hg38
NM_020630 chr10:g.43113654T>C c.1858T>C p.C620R RefSeq GRCh38/hg38
NM_020975 chr10:g.43113654T>C c.1858T>C p.C620R RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43113654T>C c.1858T>C p.C620R RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET C620R thyroid gland medullary carcinoma predicted - sensitive Everolimus Case Reports/Case Series Actionable In a Phase II clinical trial, Afinitor (everolimus) treatment resulted in stable disease of 116 weeks in a MEN2A patient with medullary thyroid cancer harboring a RET C620R mutation (PMID: 26294908; NCT01118065). 26294908
RET C620R Advanced Solid Tumor sensitive Selpercatinib Preclinical - Cell culture Actionable In a preclinical study, Retevmo (selpercatinib) inhibited viability in transformed cells expressing RET C620R in culture (PMID: 36166639). 36166639
RET C620R Advanced Solid Tumor sensitive Pralsetinib Preclinical - Cell culture Actionable In a preclinical study, Gavreto (pralsetinib) inhibited viability in transformed cells expressing RET C620R in culture (PMID: 36166639). 36166639