RET C630Y
Gene Variant Detail

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Gene RET
Variant C630Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET C630Y lies within the extracellular domain of the Ret protein (UniProt.org). C630Y results in increased phosphorylation of Ret, Akt, and Pi3k, increased colony formation and migration (PMID: 34905813), and is transforming in culture (PMID: 10049754).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C630Y

RET mutant RET C630X RET C630Y

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Transcript NM_020975.6
gDNA chr10:g.43114489G>A
cDNA c.1889G>A
Protein p.C630Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975.6 chr10:g.43114489G>A c.1889G>A p.C630Y RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114489G>A c.1889G>A p.C630Y RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114489G>A c.1889G>A p.C630Y RefSeq GRCh38/hg38
NM_020630 chr10:g.43114489G>A c.1889G>A p.C630Y RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114489G>A c.1889G>A p.C630Y RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114489G>A c.1889G>A p.C630Y RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114489G>A c.1889G>A p.C630Y RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114489G>A c.1889G>A p.C630Y RefSeq GRCh38/hg38
NM_020975 chr10:g.43114489G>A c.1889G>A p.C630Y RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114489G>A c.1889G>A p.C630Y RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET C630Y 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 C630Y; ORR was 73% (64/88) in treatment naive patients (PMID: 32846061; NCT03157128). 32846061 detail... detail...