ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.125_136del (p.Glu42_Glu45del)

dbSNP: rs1300269779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507137 SCV000601871 uncertain significance not specified 2016-12-21 criteria provided, single submitter clinical testing
Invitae RCV000542408 SCV000646472 uncertain significance Colorectal cancer, susceptibility to, 10 2023-09-19 criteria provided, single submitter clinical testing This variant, c.125_136del, results in the deletion of 4 amino acid(s) of the POLD1 protein (p.Glu42_Glu45del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POLD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 439249). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000575217 SCV000674316 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-06 criteria provided, single submitter clinical testing The c.125_136del12 variant (also known as p.E42_E45del) is located in coding exon 1 of the POLD1 gene. This variant results from an in-frame AGGAGATGGAGG deletion at nucleotide positions 125 to 136. This results in the in-frame deletion of 4 amino acids between codons 42 and 45. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Counsyl RCV000542408 SCV000785721 uncertain significance Colorectal cancer, susceptibility to, 10 2017-11-08 criteria provided, single submitter clinical testing

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