ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.3257G>A (p.Arg1086Gln)

gnomAD frequency: 0.00025  dbSNP: rs3219457
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081021 SCV000287620 likely benign Colorectal cancer, susceptibility to, 10 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000235427 SCV000293928 uncertain significance not provided 2023-08-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32041611, 20951805, 29717118, 19966286, 35620275, 12376507)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781761 SCV000920063 uncertain significance not specified 2018-01-02 criteria provided, single submitter clinical testing Variant summary: The POLD1 c.3257G>A (p.Arg1086Gln) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant. This variant was found in 25/268244 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.000871 (20/22966). This frequency is about 61 times the estimated maximal expected allele frequency of a pathogenic POLD1 variant (0.0000142), suggesting this is possibly a benign polymorphism found primarily in the populations of African origin. This population frequency data need to be considered with caution, since POLD1 pseudogenes have been reported. Two clinical diagnostic laboratories classified this variant as uncertain significance. Taken together, this variant is classified as VUS-possibly benign.
Sema4, Sema4 RCV002256144 SCV002534670 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-08 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000781761 SCV004027036 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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