ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.325C>G (p.Gln109Glu)

gnomAD frequency: 0.00001  dbSNP: rs1334973313
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689476 SCV000817129 uncertain significance Colorectal cancer, susceptibility to, 10 2023-08-02 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 568963). This variant has not been reported in the literature in individuals affected with POLD1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 109 of the POLD1 protein (p.Gln109Glu).
GeneDx RCV001527351 SCV001738325 uncertain significance not provided 2023-08-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in germline to our knowledge; This variant is associated with the following publications: (PMID: 29056344)

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