ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.85C>T (p.Pro29Ser)

gnomAD frequency: 0.00001  dbSNP: rs750303995
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471199 SCV000547522 uncertain significance Colorectal cancer, susceptibility to, 10 2023-12-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 29 of the POLD1 protein (p.Pro29Ser). This variant is present in population databases (rs750303995, gnomAD 0.01%). 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: 407976). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001551983 SCV001772594 uncertain significance not provided 2019-10-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genetics and Molecular Pathology, SA Pathology RCV000471199 SCV002761438 uncertain significance Colorectal cancer, susceptibility to, 10 2020-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168789 SCV003912752 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-13 criteria provided, single submitter clinical testing The p.P29S variant (also known as c.85C>T), located in coding exon 1 of the POLD1 gene, results from a C to T substitution at nucleotide position 85. The proline at codon 29 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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