ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.328C>T (p.Pro110Ser)

gnomAD frequency: 0.00003  dbSNP: rs531059492
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459196 SCV000547598 uncertain significance Colorectal cancer, susceptibility to, 10 2024-01-10 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 110 of the POLD1 protein (p.Pro110Ser). This variant is present in population databases (rs531059492, gnomAD 0.02%). 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: 408046). 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 RCV000996985 SCV002061057 uncertain significance not provided 2023-11-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26438511)
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268074 SCV002552091 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing

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