ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.530G>A (p.Arg177His)

gnomAD frequency: 0.00004  dbSNP: rs3218750
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527163 SCV000646674 uncertain significance Colorectal cancer, susceptibility to, 10 2023-11-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 177 of the POLD1 protein (p.Arg177His). This variant is present in population databases (rs3218750, 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: 469360). 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 disruptive. 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.
PreventionGenetics, part of Exact Sciences RCV000679520 SCV000806548 uncertain significance not provided 2017-08-02 criteria provided, single submitter clinical testing
GeneDx RCV000679520 SCV001816525 uncertain significance not provided 2022-02-21 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: 15766587)
Sema4, Sema4 RCV002258959 SCV002534683 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-28 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493636 SCV004242975 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing

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