ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2563C>G (p.Arg855Gly)

dbSNP: rs768048535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465249 SCV000547636 uncertain significance Colorectal cancer, susceptibility to, 10 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 855 of the POLD1 protein (p.Arg855Gly). This variant is present in population databases (rs768048535, gnomAD 0.001%). 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: 408084). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284207 SCV001469865 uncertain significance not provided 2019-10-04 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000465249 SCV004171408 uncertain significance Colorectal cancer, susceptibility to, 10 2023-11-13 criteria provided, single submitter clinical testing The POLD1 c.2563C>G (p.Arg855Gly) missense change has a maximum subpopulation frequency of 0.002% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in the literature in individuals with POLD1-related disease. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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