POLD1 L606M
Gene Variant Detail

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Gene POLD1
Variant L606M
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions POLD1 L606M lies within the polymerase domain of the Pold1 protein (PMID: 27093186). L606M results in increased polymerase activity and exonuclease activity but increased base substitution error rate and mutational rate compared to wild-type Pold1 (PMID: 19540301), and therefore is predicted to lead to a loss of Pold1 protein function.
Associated Drug Resistance
Category Variants Paths

POLD1 mutant POLD1 inact mut POLD1 L606M

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Transcript NM_002691.4
gDNA chr19:g.50408825C>A
cDNA c.1816C>A
Protein p.L606M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047438948.1 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
NM_002691.4 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
NM_001308632.1 chr19:g.50408747_50408749delCTAinsATG c.1816_1818delCTAinsATG p.L606M RefSeq GRCh38/hg38
XM_047438950.1 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_047438949.1 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_017026882.3 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_047438947.1 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
NM_001256849.1 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_047438946.1 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_005259008.5 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_011527038.2 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
POLD1 inact mut Advanced Solid Tumor sensitive E7449 Preclinical Actionable In a preclinical study, E7449 inhibited proliferation of a POLD1-deficient cell line in culture, which demonstrated increased sensitivity compared to cells without DNA repair pathway mutations (PMID: 26513298). 26513298
POLD1 inact mut colorectal cancer not applicable N/A Guideline Prognostic POLD1 inactivating mutations are associated with a more favorable prognosis in patients with colorectal cancer (NCCN.org). detail...
POLD1 inact mut colorectal carcinoma not applicable N/A Guideline Risk Factor Germline POLD1 inactivating mutations result in polymerase proofreading-associated polyposis and are associated with increased risk of developing colorectal carcinoma (NCCN.org). detail...
POLD1 mutant Advanced Solid Tumor predicted - sensitive unspecified PD-1 antibody Clinical Study - Cohort Actionable In a clinical study, immune checkpoint inhibitor (ICI) treatment, including CTLA4, PD-1, and PD-L1-targeting antibodies, resulted in prolonged overall survival (34 vs 18 months, p=0.004) in patients with advanced solid tumors harboring POLE or POLD1 mutations compared to wild-type patients, and POLE/POLD1 mutation served as a predictor of response to ICI (p=0.047, HR=1.41) independent of MSI-H status (PMID: 31415061). 31415061
POLD1 mutant Advanced Solid Tumor predicted - sensitive unspecified CTLA4 antibody Clinical Study - Cohort Actionable In a clinical study, immune checkpoint inhibitor (ICI) treatment, including CTLA4, PD-1, and PD-L1-targeting antibodies, resulted in prolonged overall survival (34 vs 18 months, p=0.004) in patients with advanced solid tumors harboring POLE or POLD1 mutations compared to wild-type patients, and POLE/POLD1 mutation served as a predictor of response to ICI (p=0.047, HR=1.41) independent of MSI-H status (PMID: 31415061). 31415061
POLD1 mutant Advanced Solid Tumor predicted - sensitive unspecified PD-L1 antibody Clinical Study - Cohort Actionable In a clinical study, immune checkpoint inhibitor (ICI) treatment, including CTLA4, PD-1, and PD-L1-targeting antibodies, resulted in prolonged overall survival (34 vs 18 months, p=0.004) in patients with advanced solid tumors harboring POLE or POLD1 mutations compared to wild-type patients, and POLE/POLD1 mutation served as a predictor of response to ICI (p=0.047, HR=1.41) independent of MSI-H status (PMID: 31415061). 31415061