RET C634Y
Gene Variant Detail

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Gene RET
Variant C634Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET C634Y lies within the cysteine-rich region of the Ret protein (PMID: 9230192). C634Y results in formation of covalent Ret homodimers, increased Ret phosphorylation and activation of downstream signaling, resistance to apoptosis, and is transforming in cell culture (PMID: 9230192, PMID: 10919641).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C634Y

RET mutant RET C634X RET C634Y

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Transcript NM_020975.6
gDNA chr10:g.43114501G>A
cDNA c.1901G>A
Protein p.C634Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_001406783.1 chr10:g.43123796G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_020975 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_001406786.1 chr10:g.43123796G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET C634Y Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited proliferation of transformed cells harboring RET C634Y in culture (PMID: 23526464). 23526464
RET C634Y Advanced Solid Tumor sensitive HG-6-63-01 Preclinical Actionable In a preclinical study, HG-6-63-01 inhibited RET phosphorylation and downstream signaling and reduced proliferation of transformed cells expressing RET C634Y in culture (PMID: 26046350). 26046350
RET C634Y Advanced Solid Tumor sensitive XMD15-44 Preclinical Actionable In a preclinical study, XMD15-44 inhibited RET phosphorylation and downstream signaling and reduced proliferation of transformed cells expressing RET C634Y in culture (PMID: 26046350). 26046350
RET C634Y Advanced Solid Tumor sensitive ALW-II-41-27 Preclinical - Cell culture Actionable In a preclinical study, ALW-II-41-27 inhibited RET phosphorylation and downstream signaling, reduced proliferation of transformed cells expressing RET C634Y in culture (PMID: 26046350). 26046350
RET C634Y medullary thyroid carcinoma predicted - sensitive Sorafenib Case Reports/Case Series Actionable In a Phase II trial, Nexavar (sorafenib) treatment resulted in stable disease in one patient with medullary thyroid carcinoma harboring RET C634Y (PMID: 20368568; NCT00390325). 20368568
RET C634Y 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 C634Y; ORR was 73% (64/88) in treatment naive patients (PMID: 32846061; NCT03157128). detail... detail... 32846061