ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2428G>A (p.Ala810Thr)

dbSNP: rs760358465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232510 SCV000287573 uncertain significance Colorectal cancer, susceptibility to, 10 2023-09-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 239291). This variant has not been reported in the literature in individuals affected with POLD1-related conditions. This variant is present in population databases (rs760358465, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 810 of the POLD1 protein (p.Ala810Thr). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt POLD1 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 RCV001589182 SCV001826077 uncertain significance not provided 2020-02-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); 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
CeGaT Center for Human Genetics Tuebingen RCV001589182 SCV003918173 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing POLD1: PM2:Supporting

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