Submissions for variant NM_002691.4(POLD1):c.810T>C (p.Ala270=)

gnomAD frequency: 0.12250  dbSNP: rs1143666

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000433719	SCV000518036	benign	not specified	2015-11-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000572385	SCV000670876	benign	Hereditary cancer-predisposing syndrome	2015-05-20	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000587531	SCV000698014	benign	not provided	2016-05-18	criteria provided, single submitter	clinical testing	Variant summary: The POLD1 c.810T>C (p.Ala270Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation Taster predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 4320/81220 control chromosomes (including 653 homozygotes) at a frequency of 0.0531889, which is approximately 3744 times the estimated maximal expected allele frequency of a pathogenic POLD1 variant (0.0000142), suggesting this variant is a benign polymorphism. Taken together, this variant is classified as Benign.
PreventionGenetics, part of Exact Sciences	RCV000433719	SCV000806560	benign	not specified	2016-10-03	criteria provided, single submitter	clinical testing
Invitae	RCV001511772	SCV001719068	benign	Colorectal cancer, susceptibility to, 10	2024-02-01	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000433719	SCV002551888	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001511772	SCV004016617	benign	Colorectal cancer, susceptibility to, 10	2023-07-07	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000433719	SCV002034410	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000433719	SCV002036424	benign	not specified		no assertion criteria provided	clinical testing